(used for variant description)
(last modified August 26, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_006502.2 in the POLH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009252.1, covering POLH transcript NM_006502.2.
(upstream sequence)
g.5004
agcc c.-301
. . . . . . g.5064
gcgtcaacggcccttcgcagcgggcgcgctgtcagacctcagtctggcggctgcattgct c.-241
. . . . . . g.5124
gggcgcgccgctctcgtctgatccctgctggggacggttgcccgggcaggatcctttacg c.-181
. . . . . . g.5184
atcccttctcggtttctccgtcgtcacagggaataaatctcgctcgaaactcactggacc c.-121
. . . . . . g.5244
gctcctagaaaggcgaaaagatattcaggagcccttccattttccttccagtaggcaccg c.-61
. . . . . . | 02 g.11179
aacccagcattttcggcaaccgctgctggcagttttgccaggtgtttgttaccttg | aaaa c.-1
. . . . . . g.11239
ATGGCTACTGGACAGGATCGAGTGGTTGCTCTCGTGGACATGGACTGTTTTTTTGTTCAA c.60
M A T G Q D R V V A L V D M D C F F V Q p.20
. . . . . . g.11299
GTGGAGCAGCGGCAAAATCCTCATTTGAGGAATAAACCTTGTGCAGTTGTACAGTACAAA c.120
V E Q R Q N P H L R N K P C A V V Q Y K p.40
. | 03. . . . . g.11909
TCATGGAAGGGTGGTGG | AATAATTGCAGTGAGTTATGAAGCTCGTGCATTTGGAGTCACT c.180
S W K G G G | I I A V S Y E A R A F G V T p.60
. . . . . . g.11969
AGAAGTATGTGGGCAGATGATGCTAAGAAGTTATGTCCAGATCTTCTACTGGCACAAGTT c.240
R S M W A D D A K K L C P D L L L A Q V p.80
. . . | 04 . . . g.16159
CGTGAGTCCCGTGGGAAAGCTAACCTCACCAA | GTACCGGGAAGCCAGTGTTGAAGTGATG c.300
R E S R G K A N L T K | Y R E A S V E V M p.100
. . . . . . g.16219
GAGATAATGTCTCGTTTTGCTGTGATTGAACGTGCCAGCATTGATGAGGCTTACGTAGAT c.360
E I M S R F A V I E R A S I D E A Y V D p.120
. . . . . . g.16279
CTGACCAGTGCTGTACAAGAGAGACTACAAAAGCTACAAGGTCAGCCTATCTCGGCAGAC c.420
L T S A V Q E R L Q K L Q G Q P I S A D p.140
. . . . . . g.16339
TTGTTGCCAAGCACTTACATTGAAGGGTTGCCCCAAGGCCCTACAACGGCAGAAGAGACT c.480
L L P S T Y I E G L P Q G P T T A E E T p.160
. | 05 . . . . . g.26605
GTTCAGAAAG | AGGGGATGCGAAAACAAGGCTTATTTCAATGGCTCGATTCTCTTCAGATT c.540
V Q K E | G M R K Q G L F Q W L D S L Q I p.180
. . . . . . g.26665
GATAACCTCACCTCTCCAGACCTGCAGCTCACCGTGGGAGCAGTGATTGTGGAGGAAATG c.600
D N L T S P D L Q L T V G A V I V E E M p.200
. . . . . . g.26725
AGAGCAGCCATAGAGAGGGAGACTGGTTTTCAGTGTTCAGCTGGAATTTCACACAATAAG c.660
R A A I E R E T G F Q C S A G I S H N K p.220
| 06 . . . . . . g.29907
| GTCCTGGCAAAACTGGCCTGTGGACTAAACAAGCCCAACCGCCAAACCCTGGTTTCACAT c.720
| V L A K L A C G L N K P N R Q T L V S H p.240
. . . . | 07 . . g.32767
GGGTCAGTCCCACAGCTCTTCAGCCAAATGCCCATTCGCAAAAT | CCGTAGTCTTGGAGGA c.780
G S V P Q L F S Q M P I R K I | R S L G G p.260
. . . . . . g.32827
AAGCTAGGGGCCTCTGTCATTGAGATCCTAGGGATAGAATACATGGGTGAACTGACCCAG c.840
K L G A S V I E I L G I E Y M G E L T Q p.280
. . . . | 08 . . g.33490
TTCACTGAATCCCAGCTCCAGAGTCATTTTGGGGAGAAGAATGG | GTCTTGGCTATATGCC c.900
F T E S Q L Q S H F G E K N G | S W L Y A p.300
. . . . . . g.33550
ATGTGCCGAGGGATTGAACATGATCCAGTTAAACCCAGGCAACTACCCAAAACCATTGGC c.960
M C R G I E H D P V K P R Q L P K T I G p.320
. . . . | 09 . g.34125
TGTAGTAAGAACTTCCCAGGAAAAACAGCTCTTGCTACTCGGGAACAG | GTACAATGGTGG c.1020
C S K N F P G K T A L A T R E Q | V Q W W p.340
. . . . . | 10 . g.39419
CTGTTGCAATTAGCCCAGGAACTAGAGGAGAGACTGACTAAAGACCGAAATGAT | AATGAC c.1080
L L Q L A Q E L E E R L T K D R N D | N D p.360
. . . . . . g.39479
AGGGTAGCCACCCAGCTGGTTGTGAGCATTCGTGTACAAGGAGACAAACGCCTCAGCAGC c.1140
R V A T Q L V V S I R V Q G D K R L S S p.380
. . . . . . g.39539
CTGCGCCGCTGCTGTGCCCTTACCCGCTATGATGCTCACAAGATGAGCCATGATGCATTT c.1200
L R R C C A L T R Y D A H K M S H D A F p.400
. . . . | 11 . . g.42535
ACTGTCATCAAGAACTGTAATACTTCTGGAATCCAGACAGAATG | GTCTCCTCCTCTCACA c.1260
T V I K N C N T S G I Q T E W | S P P L T p.420
. . . . . . g.42595
ATGCTTTTCCTCTGTGCTACAAAATTTTCTGCCTCTGCCCCTTCATCTTCTACAGACATC c.1320
M L F L C A T K F S A S A P S S S T D I p.440
. . . . . . g.42655
ACCAGCTTCTTGAGCAGTGACCCAAGTTCTCTGCCAAAGGTGCCAGTTACCAGCTCAGAA c.1380
T S F L S S D P S S L P K V P V T S S E p.460
. . . . . . g.42715
GCTAAGACCCAGGGAAGTGGCCCAGCGGTGACAGCCACTAAGAAAGCAACCACGTCTCTG c.1440
A K T Q G S G P A V T A T K K A T T S L p.480
. . . . . . g.42775
GAATCATTCTTCCAAAAAGCTGCAGAAAGGCAGAAAGTTAAAGAAGCTTCGCTTTCATCT c.1500
E S F F Q K A A E R Q K V K E A S L S S p.500
. . . . . . g.42835
CTTACTGCTCCCACTCAGGCTCCCATGAGCAATTCACCATCCAAGCCCTCATTACCTTTT c.1560
L T A P T Q A P M S N S P S K P S L P F p.520
. . . . . . g.42895
CAAACCAGTCAAAGTACAGGAACTGAGCCCTTCTTTAAGCAGAAAAGTCTGCTTCTAAAG c.1620
Q T S Q S T G T E P F F K Q K S L L L K p.540
. . . . . . g.42955
CAGAAACAGCTTAATAATTCTTCAGTTTCTTCCCCCCAACAAAACCCATGGTCCAACTGT c.1680
Q K Q L N N S S V S S P Q Q N P W S N C p.560
. . . . . . g.43015
AAAGCATTACCAAACTCTTTACCAACAGAGTATCCAGGGTGTGTCCCTGTTTGTGAAGGG c.1740
K A L P N S L P T E Y P G C V P V C E G p.580
. . . . . . g.43075
GTGTCGAAGCTAGAAGAATCCTCTAAAGCAACTCCTGCAGAGATGGATTTGGCCCACAAC c.1800
V S K L E E S S K A T P A E M D L A H N p.600
. . . . . . g.43135
AGCCAAAGCATGCACGCCTCTTCAGCTTCCAAATCTGTGCTGGAGGTGACTCAGAAAGCA c.1860
S Q S M H A S S A S K S V L E V T Q K A p.620
. . . . . . g.43195
ACCCCAAATCCAAGTCTTCTAGCTGCTGAGGACCAAGTGCCCTGTGAGAAGTGTGGCTCC c.1920
T P N P S L L A A E D Q V P C E K C G S p.640
. . . . . . g.43255
CTGGTACCGGTATGGGATATGCCAGAACACATGGACTATCATTTTGCATTGGAGTTGCAG c.1980
L V P V W D M P E H M D Y H F A L E L Q p.660
. . . . . . g.43315
AAATCCTTTTTGCAGCCCCACTCTTCAAACCCCCAGGTTGTTTCTGCCGTATCTCATCAA c.2040
K S F L Q P H S S N P Q V V S A V S H Q p.680
. . . . . . g.43375
GGCAAAAGAAATCCCAAGAGCCCTTTGGCCTGCACTAATAAACGCCCCAGGCCTGAGGGC c.2100
G K R N P K S P L A C T N K R P R P E G p.700
. . . . g.43417
ATGCAAACATTGGAATCATTTTTTAAGCCATTAACACATTAG c.2142
M Q T L E S F F K P L T H X p.713
. . . . . . g.43477
tgctgccctcaggcttgcctgtaggatttaatattttttatctttacagatctttatctt c.*60
. . . . . . g.43537
taatattttatctttacagatttccctgagaaagggaattatgaaatttttaatacaaaa c.*120
. . . . . . g.43597
aataatccatttaggtgctgagttacggtcccatctcttcacaggcatggattctaatcc c.*180
. . . . . . g.43657
cactgctgacagagatgtaaaaattcatcctaccagagtttttaatctttagcatttagg c.*240
. . . . . . g.43717
gaggcagtgtcataaagtaaaaagtgtgtgggccttggagtctaagagacgtggttgcaa c.*300
. . . . . . g.43777
acttagctctggttattgcaatgagggccttgaacaagtcattttcttcacattctcatc c.*360
. . . . . . g.43837
tgtaaaatggagataataccttacagattattgcagattaataacaatgtattcaaatta c.*420
. . . . . . g.43897
tgtaactcggccgggtacaatggctcacgcctgtaatcctaacactttgggaggccgagg c.*480
. . . . . . g.43957
cagacagatcacctgaggtcaggagtttgagaccagcctggccaacatggcaaaaccatc c.*540
. . . . . . g.44017
tctactaaaaatagaaaaattagccaggcacgttccaggcacctgtgatcccagctactt c.*600
. . . . . . g.44077
agaggctgaggcagaagaattgctttaaccttggaggcggaggttgcattgagctgagat c.*660
. . . . . . g.44137
catgctagtgcgctccagcctgggcaacagagcgagacttcatctcagaaaataaaaaat c.*720
. . . . . . g.44197
aggggccaggcacagtggctcatacctgtaatgccagcactttgggaggccaaggcgggc c.*780
. . . . . . g.44257
agatcacgaggtcaggagtttcagaccaatatggtgaaaccccatctctactaaaattac c.*840
. . . . . . g.44317
aaaaaaaattatccaggcgtggtggtgcacgcctgtaatcccagctactcaggaggctaa c.*900
. . . . . . g.44377
ggcaggagaatcacttgaacccaggaggcagaggttggagtgagctgagatcgcgccacc c.*960
. . . . . . g.44437
gcactccagcctgggcaacagagcgagactccatctcaaacaaaaacaagaacaaaaaca c.*1020
. . . . . . g.44497
aacataaagttggcacagaaaagggaccaagtttaaaaaagggttttaaatgtaatgaga c.*1080
. . . . . . g.44557
cttgcatagttaaaaaaaaaaaagggattatttttatttttattttttatttttgagacg c.*1140
. . . . . . g.44617
gagtctccctctgtcgtcaggctagaatgcagtggtgcgttctcagctcaccgcaacctc c.*1200
. . . . . . g.44677
cgtctcctgggttcaagcaattctcctgcctcagcctcccaagtagctgggactacaggc c.*1260
. . . . . . g.44737
acgtgctaccacactcagctaatttttgtatttttaatagagatgaggtttcaccatgtt c.*1320
. . . . . . g.44797
ggccaggatggtctcgattgcttgacctcatgatccgcctgcctcgacctcccaaagttg c.*1380
. . . . . . g.44857
ctgggattacagatgttagccaccgatcctggcccccccaaaaaaaggattttaagaaaa c.*1440
. . . . . . g.44917
acttctcttggccgggcgcagtggctcacgcctgcaatcccagcactttgggaggccgag c.*1500
. . . . . . g.44977
gcgggcggatcacaaggtcaggagatcgagaccacggtgaaaccccgtctctactaaaaa c.*1560
. . . . . . g.45037
atacaaaaaaaaattagccgggtgcggtggcaggcgcctgtagtcccagctactcgggag c.*1620
. . . . . . g.45097
gctgaggcaggagaatggtgtgaacccgggaggcggagcttgcagtgagccgagagcgcg c.*1680
. . . . . . g.45157
ccactgcactccagcctgggtgacagagcgagactccgtctcaaaaaaaaaaaaaaaaga c.*1740
. . . . . . g.45217
aaaacttctctttaggctgggtgcggttcctcatgcctataatcccagcatttagggagg c.*1800
. . . . . . g.45277
ctgaggtgagtggattgcaggagctcaggagttcgagaccagcctgggcaaggtggcaaa c.*1860
. . . . . . g.45337
accccgtctctactaaaaaaaattagctgggcttggtggcaggcgcctgtaatcccaggt c.*1920
. . . . . . g.45397
actcgggagactgaggcaggagaattgcttgaacctggaaggtggaggttgcagtgagtt c.*1980
. . . . . . g.45457
gagatcacaccaatgcactccagccagggtgagagtgagagactgtctcaaaaaaaaaaa c.*2040
. . . . . . g.45517
aaacaaaagaaaaacttctctctagctctgtgacgggcagttcagataataccttcacca c.*2100
. . . . . . g.45577
gatttacctgttttcagctgaagaatgtgagatgaagccttgaaaccctaaaagtgatat c.*2160
. . . . . . g.45637
ggtaactagggcaggtctttctgtacataaaagtgacttaataaacagtgaatttcatac c.*2220
. . . . . . g.45697
aggtaaaccctattataccctcagttctaaccattggcctatctcttgcgttttgttcta c.*2280
. . . . . . g.45757
atgtagaattagattgctacttgactagttcaggaactctgtttagatctgataagtcat c.*2340
. . . . . . g.45817
aatcaaatcttgccaggcgtggtggtttatgcctgttatcccagcactttgggaggccaa c.*2400
. . . . . . g.45877
ggcaggtggaccacgtgaagtcaggagttcaagacaagcatggccaacatggcgaaaccc c.*2460
. . . . . . g.45937
tgtatctactaaaaatacaaaaattagccgggcatggtggtgggtgcgtgtaatcccagc c.*2520
. . . . . . g.45997
tagttgggaggctgaggcaggagaatcacttgaacctgggaggcagaggttgcagtgagc c.*2580
. . . . . . g.46057
cgagatttccactgcattccagcctgggcgatagagtaactctgtctcaaaaaaacccac c.*2640
. . . . . . g.46117
tagatcatctctagaacattgctactcccaagtatgatttgaggaacagcagcctcagta c.*2700
. . . . . . g.46177
tcaccagggaacttattagaaatagtctcagcctcaccactattcccacttaattgtaat c.*2760
. . . . . . g.46237
ctgatattaacaagatttcccaatgtgggtcaggtgtggtggctcatgcctgtaatccca c.*2820
. . . . . . g.46297
cactttgggaggccaaggtgggcggatcacttgaggctgggagtttgagaccaggctggc c.*2880
. . . . . . g.46357
caacatggggaaaacccatctctacaaaaaataacaaaaattaggtgtgtgtggtgacgc c.*2940
. . . . . . g.46417
atgcgtgtaatcccagctacttaggaggctgaggcaggagaatcacttgaatctgggagg c.*3000
. . . . . . g.46477
cagaggttgtagtgagctgagattgtgccactgcactccagtctgggcaacagagtgaca c.*3060
. . . . . . g.46537
ctgtttaaaaaaaaaaaaattcccaatgtgggccgggtgcagtggctcatgcctgtaatc c.*3120
. . . . . . g.46597
ccagcactttgggaggctgaggtgggtgtatcacgaggtcaagagatcaaggccatcctg c.*3180
. . . . . . g.46657
gccaacatggtgaaaccccgtctctactgaaaatacaactgggcgtggtggtgcacgcct c.*3240
. . . . . . g.46717
gtagtcccagctacttgggaggctgaggcagaagaattgcttgacctgggaggcggagct c.*3300
. . . . . . g.46777
tgcagtgagcccagatcgtgccactgcactgcaccctggcgacacagcaagactgtctca c.*3360
. . . . . . g.46837
aaaaaaaaaaaattcccaatgtgtatcttaaagtttgagaaatgctgatctaaaagatac c.*3420
. . . . . . g.46897
taatgaccaggtgtgtagaggacattttcttaagcccttaagtacaaatttaagaggtaa c.*3480
. . . . . . g.46957
gtgcttcagccattagggttactggcttgttcatctttcccactgagtgtaaatatttag c.*3540
. . . . . . g.47017
cttagggtttaaaatttgttatgtagctttttgcacttgtccatgtttatactactgtat c.*3600
. . . . . . g.47077
tattattatttttttttgagatggagtctcgctgtgtagccaggctggagtgcagtggtg c.*3660
. . . . . . g.47137
caatcttggctcactgcaacctccgtctctcgggttcaagcaattctcctgcctcagctt c.*3720
. . . . . . g.47197
cccgaatagctgagactacaagcgtgcaccaccatgcccagctaatttttgtatttttag c.*3780
. . . . . . g.47257
tagagacaggttttcaccatgttggccaggctggtctctatctagacctcgtgatccatc c.*3840
. . . . . . g.47317
cgcctcggcctcccaaagtgctgggattataggcatgagccaccacgcccagcctatagt c.*3900
. . . . . . g.47377
actgtattcttattctccactcttgtgtgtgaaaagtcagctcttttggcttttctgtta c.*3960
. . . . . . g.47437
tggggaaacttgaattacacagggaacccaactgaagaaaatgaactgaagtaggtggcg c.*4020
. . . . . . g.47497
ctgggtgaagtgggcccagagaatggtgtacacatccctcccatacatatacccaaactt c.*4080
. . . . . . g.47557
ctatttttttatgtgacggagtttctctcatcgccccggctggaatgcaatggcacgatc c.*4140
. . . . . . g.47617
tcggctcactgcaacctccgcctcccgggttcaagcgattctcctgcatcagcctcctga c.*4200
. . . . . . g.47677
gtagctgggattataggcatgcaccatcacgcctggctaatttttgtatttttagtagag c.*4260
. . . . . . g.47737
atggggtttcgccacgttggccaggctggtcttgaactcttgatctcaagtgatccaccc c.*4320
. . . . . . g.47797
gccctggcctcccaaagtgctgggattacaggcctgagccaccaggccagccccaacttc c.*4380
. . . . . . g.47857
tactttttattttatttataaattggggggggggttctatatttagtttgaagaggtggg c.*4440
. . . . . . g.47917
gaagatttgaaaaccactagatttaccaggaaatttttttcttcaaaaatattttctgct c.*4500
. . . . . . g.47977
tttatgatacttgaatatctaataaaagacaatatttagccagtcacggtggctgatgct c.*4560
. . . . . . g.48037
tgtaatcctaacactttgggaggctgaggtgggtggactactggagccctggagttcaaa c.*4620
. . . . . . g.48097
accggcctaagccacatggcaaaacagtctttacaaaaaatacaaagatggtggcttatg c.*4680
. . . . . . g.48157
cctgtagtcgtacctactcaggaggctgaggttgggaggatcacctgaatctgggagttt c.*4740
. . . . . . g.48217
ggggctgcaataagccatgattgtgccgctgcactccagcctgggtgacagtctgagacc c.*4800
. . . . . . g.48277
ctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagactacattcactgtatacgtgg c.*4860
. . . . . . g.48337
ccttttccccctaactagctatgtagcttcttaaaggcaaagattcttcatagtgctttg c.*4920
. . . . . . g.48397
cacatgataggtgctgatactcattggatgaatgtatatagtgaagaattttagatctga c.*4980
. . . . . . g.48457
ttaccacaattgggatcataaacatgtataaactccttgggagtctgccttatatacttt c.*5040
. . . . . . g.48517
ttatccccctaaatgttccattaatgttgcagagaggctcactagttcctggagatgtct c.*5100
. . . . . . g.48577
tattaagtactgaaatgtgattttccaaaattttctttacaatacaggcaaaagataagt c.*5160
. . . . . . g.48637
aaattgtggacaaagctttcatctctatcagcagctatagagaggaagtaaacagcttag c.*5220
. . . . . . g.48697
cccctaatacaggaggaagttgttcaactacaggcttgttagtagcaagttaaaccagtt c.*5280
. . . . . . g.48757
acattttataaaacagcctgagtggtagggaagctatcactttaatactctagaggcaga c.*5340
. . . . . . g.48817
atgccacataggactttgggtcacatatttcttttccagggtctcctcaaaatgcagttt c.*5400
. . . . . . g.48877
ctatttacagttgactttggcccctatttacccataaaatgtcaaaatcaagtagtatga c.*5460
. . . . . . g.48937
acatggaaacaggagcagggactaaggtttggtcaagtggccctcattgttccaagagta c.*5520
. . . . . . g.48997
atttaggctatgtaaacttgaaaaatatgggaccagattaccttttgtctctaaattcta c.*5580
. . . . . . g.49057
ctcttctttaagtagctggcactgtatctctgccagggcacagaagtgggctccttacta c.*5640
. . . . . . g.49117
ttctgaccactagcaagtggccaactcttcaaatacagggtagctacctatttcacgtga c.*5700
. . . . . . g.49177
aaggcctcagtattctgctcacttgaactacggaaaataggccacaatacttggttacaa c.*5760
. . . . . . g.49237
tactggaactctgaacctatgtggaggagagaaaaacaatggtgaacgagataccagctg c.*5820
. . . . . . g.49297
ggctctttccacattcagggctcagcagtgttggggtttcacttgtctctaatcctgaag c.*5880
. . . . . . g.49357
aggtatctagccctggaaggaagctgagcctgtagctaacgcataagcacagtgtattca c.*5940
. . g.49383
ataaaacatttttattctgtacaata c.*5966
(downstream sequence)
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