(used for variant description)
(last modified November 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_016628.4 in the WAC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering WAC transcript NM_016628.4.
(upstream sequence)
. . g.6027
cgcccgccgccgccgccgcctgcgcgcc c.-61
. . . . . . g.6087
cgcccgcctttcgcggccgctctcccccctccccgacacacactcacaggccgggcattg c.-1
. . . . | 02 . . g.6524
ATGGTAATGTATGCGAGGAAACAGCAGAGACTCAGTGATGG | CTGTCACGACCGGAGGGGG c.60
M V M Y A R K Q Q R L S D G | C H D R R G p.20
. | 03 . . . . g.8111
GACTCGCAGCCTTACCAG | GCACTTAAGTATTCATCGAAGAGTCACCCCAGTAGCGGTGAT c.120
D S Q P Y Q | A L K Y S S K S H P S S G D p.40
. . . . . . g.8171
CACAGACATGAAAAGATGCGAGACGCCGGAGATCCTTCACCACCAAATAAAATGTTGCGG c.180
H R H E K M R D A G D P S P P N K M L R p.60
. . . . . . g.8231
AGATCTGATAGTCCTGAAAACAAATACAGTGACAGCACAGGTCACAGTAAGGCCAAAAAT c.240
R S D S P E N K Y S D S T G H S K A K N p.80
. . . | 04 . . . g.55932
GTGCATACTCACAGAGTTAGAGAGAGGGATGGTG | GGACCAGTTACTCTCCACAAGAAAAT c.300
V H T H R V R E R D G G | T S Y S P Q E N p.100
. . . . . . g.55992
TCACACAACCACAGTGCTCTTCATAGTTCAAATTCACATTCTTCTAATCCAAGCAATAAC c.360
S H N H S A L H S S N S H S S N P S N N p.120
. . | 05 . . . . g.62282
CCAAGCAAAACTTCAGATGCA | CCTTATGATTCTGCAGATGACTGGTCTGAGCATATTAGC c.420
P S K T S D A | P Y D S A D D W S E H I S p.140
. . . . . . g.62342
TCTTCTGGGAAAAAGTACTACTACAATTGTCGAACAGAAGTTTCACAATGGGAAAAACCA c.480
S S G K K Y Y Y N C R T E V S Q W E K P p.160
. | 06. . . . . g.63270
AAAGAGTGGCTTGAAAG | AGAACAGAGACAAAAAGAAGCAAACAAGATGGCAGTCAACAGC c.540
K E W L E R | E Q R Q K E A N K M A V N S p.180
. . . . . . g.63330
TTCCCAAAAGATAGGGATTACAGAAGAGAGGTGATGCAAGCAACAGCCACTAGTGGGTTT c.600
F P K D R D Y R R E V M Q A T A T S G F p.200
. | 07 . . . . . g.68290
GCCAGTGGAA | TGGAAGACAAGCATTCCAGTGATGCCAGTAGTTTGCTCCCACAGAATATT c.660
A S G M | E D K H S S D A S S L L P Q N I p.220
. . . . . . g.68350
TTGTCTCAAACAAGCAGACACAATGACAGAGACTACAGACTGCCAAGAGCAGAGACTCAC c.720
L S Q T S R H N D R D Y R L P R A E T H p.240
. . . . . . g.68410
AGTAGTTCTACGCCAGTACAGCACCCCATCAAACCAGTGGTTCATCCAACTGCTACCCCA c.780
S S S T P V Q H P I K P V V H P T A T P p.260
. . . . . . g.68470
AGCACTGTTCCTTCTAGTCCATTTACGCTACAGTCTGATCACCAGCCAAAGAAATCATTT c.840
S T V P S S P F T L Q S D H Q P K K S F p.280
. . . . . . g.68530
GATGCTAATGGAGCATCTACTTTATCAAAACTGCCTACACCCACATCTTCTGTCCCTGCA c.900
D A N G A S T L S K L P T P T S S V P A p.300
. | 08 . . . . g.80734
CAGAAAACAGAAAGAAAAG | AATCTACATCAGGAGACAAACCCGTATCACATTCTTGCACA c.960
Q K T E R K E | S T S G D K P V S H S C T p.320
. . . . . . g.80794
ACTCCTTCCACGTCTTCTGCCTCTGGACTGAACCCCACATCTGCACCTCCAACATCTGCT c.1020
T P S T S S A S G L N P T S A P P T S A p.340
. . . . . . g.80854
TCAGCGGTCCCTGTTTCTCCTGTTCCACAGTCGCCAATACCTCCCTTACTTCAGGACCCA c.1080
S A V P V S P V P Q S P I P P L L Q D P p.360
. . . . . . g.80914
AATCTTCTTAGACAATTGCTTCCTGCTTTGCAAGCCACGCTGCAGCTTAATAATTCTAAT c.1140
N L L R Q L L P A L Q A T L Q L N N S N p.380
. . | 09 . . . . g.83241
GTGGACATATCTAAAATAAATGAAG | TTCTTACAGCAGCTGTGACACAAGCCTCACTGCAG c.1200
V D I S K I N E V | L T A A V T Q A S L Q p.400
. . . . . . g.83301
TCTATAATTCATAAGTTTCTTACTGCTGGACCATCTGCTTTCAACATAACGTCTCTGATT c.1260
S I I H K F L T A G P S A F N I T S L I p.420
. . | 10 . . . g.84313
TCTCAAGCTGCTCAGCTCTCTACACAAG | CCCAGCCATCTAATCAGTCTCCGATGTCTTTA c.1320
S Q A A Q L S T Q A | Q P S N Q S P M S L p.440
. . . . . . g.84373
ACATCTGATGCGTCATCCCCAAGATCATATGTTTCTCCAAGAATAAGCACACCTCAAACT c.1380
T S D A S S P R S Y V S P R I S T P Q T p.460
. . . . . | 11. g.87077
AACACAGTCCCTATCAAACCTTTGATCAGTACTCCTCCTGTTTCATCACAGCCAAAG | GTT c.1440
N T V P I K P L I S T P P V S S Q P K | V p.480
. . . . . . g.87137
AGTACTCCAGTAGTTAAGCAAGGACCAGTGTCACAGTCAGCCACACAGCAGCCTGTAACT c.1500
S T P V V K Q G P V S Q S A T Q Q P V T p.500
. . . . . | 12 . g.88684
GCTGACAAGCAGCAAGGTCATGAACCTGTCTCTCCTCGAAGTCTTCAGCGCTCAAG | TAGC c.1560
A D K Q Q G H E P V S P R S L Q R S S | S p.520
. . . . . . g.88744
CAGAGAAGTCCATCACCTGGTCCCAATCATACTTCTAATAGTAGTAATGCATCAAATGCA c.1620
Q R S P S P G P N H T S N S S N A S N A p.540
. . . . . . g.88804
ACAGTTGTACCACAGAATTCTTCTGCCCGATCCACGTGTTCATTAACGCCTGCACTAGCA c.1680
T V V P Q N S S A R S T C S L T P A L A p.560
. . . . . . g.88864
GCACACTTCAGTGAAAATCTCATAAAACACGTTCAAGGATGGCCTGCAGATCATGCAGAG c.1740
A H F S E N L I K H V Q G W P A D H A E p.580
| 13 . . . . . . g.90218
AAGCAG | GCATCAAGATTACGCGAAGAAGCGCATAACATGGGAACTATTCACATGTCCGAA c.1800
K Q | A S R L R E E A H N M G T I H M S E p.600
. . . . . . g.90278
ATTTGTACTGAATTAAAAAATTTAAGATCTTTAGTCCGAGTATGTGAAATTCAAGCAACT c.1860
I C T E L K N L R S L V R V C E I Q A T p.620
. | 14 . . . . . g.92090
TTGCGAGAGCAAAG | GATACTATTTTTGAGACAACAAATTAAGGAACTTGAAAAGCTAAAA c.1920
L R E Q R | I L F L R Q Q I K E L E K L K p.640
. . g.92114
AATCAGAATTCCTTCATGGTGTGA c.1944
N Q N S F M V X p.647
. . . . . . g.92174
agatgtgaataattgcacatggttttgagaacaggaactgtaaatctgttgcccaatctt c.*60
. . . . . . g.92234
aacatttttgagctgcatttaagtagactttggaccgttaagctgggcaaaggaaatgac c.*120
. . . . . . g.92294
aaggggacggggtctgtgagagtcaattcaggggaaagatacaagattgatttgtaaaac c.*180
. . . . . . g.92354
ccttgaaatgtagatttcttgtagatgtatccttcacgttgtaaatatgttttgtagagt c.*240
. . . . . . g.92414
gaagccatgggaagccatgtgtaacagagcttagacatccaaaactaatcaatgctgagg c.*300
. . . . . . g.92474
tggctaaatacctagccttttacatgtaaacctgtctgcaaaattagcttttttaaaaaa c.*360
. . . . . . g.92534
aaaaaaaaaaaaattgggggggttaatttatcattcagaaatcttgcattttcaaaaatt c.*420
. . . . . . g.92594
cagtgcaagcgccaggcgatttgtgtctaaggatacgattttgaaccatatgggcagtgt c.*480
. . . . . . g.92654
acaaaatatgaaacaactgtttccacacttgcacctgatcaagagcagtgcttctccatt c.*540
. . . . . . g.92714
tgttttgcagagaaatgtttttcatttcccgtgtgtttccatttccttctgaaattctga c.*600
. . . . . . g.92774
ttttatccatttttttaaggctcctctttatctcctttcttaaggcactgttgctatggc c.*660
. . . . . . g.92834
acttttctataaccttttcattcctgtgtacagtagcttaaaattgcagtgattgagcat c.*720
. . . . . . g.92894
aacctacttgtttgtataaattattgaaatccatttgcaccctgttaagaatggacttaa c.*780
. . . . . . g.92954
aagtactgctggacaggcatgtgtgctcaaagtacattgattgctcaaatataaggaaat c.*840
. . . . . . g.93014
ggcccaatgaacgtggttgtgggaggggaaagaggaaacagagctagtcagatgtgaatt c.*900
. . . . . . g.93074
gtatctgttgtaataaacatgttaaaacaaacaaaaattgttatttttcttttccttcgg c.*960
. . . . . . g.93134
tcagtgcacattagcatttgaactacctggggattctttatcagaactgttcttgttgaa c.*1020
. . . . . . g.93194
tatttatacttaattgaaataattccttaagggaggttttgtttaaaacgtattaacagg c.*1080
. . . . . . g.93254
aaattgtgtatgagatatttaatgaaataagaaattcaacaagaatgattaagtcacttc c.*1140
. . . . . . g.93314
ccaagtggttgtcatttgttaaaccctggtttacctgtcttgctattatgacatttcatt c.*1200
. . . . . . g.93374
tggaaggatgtttgtgttgtagctaactgttcaagtctggtgctgactgctgttcttagc c.*1260
. . . . . . g.93434
catcacaaaacgctaaatttgtgtaattggagcttcctgctgttatctggaaatagcagg c.*1320
. . . . . . g.93494
aaagcgcagctttgtatattgtttcctaaagtatattaaaataaaaaaagaaactattgc c.*1380
. . . . . . g.93554
tactataaaattaccttgactttttttttcctttgctgaaatattagtcacatagcctta c.*1440
. . . . . . g.93614
gcttcacactgccagtaatgtatcaaatcacaagggtttccgcatgaaaaaaatcttttc c.*1500
. . . . . . g.93674
ttcccccacaaaaaaacctttaccatcaaaatcttgccatctgatttagaaaggtgtttc c.*1560
. . . . . . g.93734
ttcttcttcttcttttttttctttaaattggtttagggttttttggtgattttttttttt c.*1620
. . . . . . g.93794
tttttttttctgttggggcagataagtgcttccaaaactggcagcaccaagggcttattt c.*1680
. . . . . . g.93854
tttatgttagacatcaatgtcaatgttactacattctcggatgctaacataaattttgaa c.*1740
. . . . . . g.93914
attgctcttgtgctttaagcatatattgaaagtatggaagttaaatgttcaggcttttca c.*1800
. . . . . . g.93974
gtaagctcaaaaagttaactgtaagcgatagtgttggtgttttctaaaatacaaaaatgt c.*1860
. . . . . . g.94034
tccagtgtaattaaaaggaattaaaatcttgaagatattttcctgtaatttaaggatact c.*1920
. . . . . . g.94094
ttttaaatgtaagaaaagacatgtcattaatttattgtcatgtttatacctctgtgagat c.*1980
. . . . . . g.94154
tgttaacatctgctgaatttaactagtgcatgtaaatgaaaccccaaagagctgtgtgtt c.*2040
. . . . . . g.94214
cagctagaaaccttactgtatctttcctggaaagaagtgagcaatttgttgtaataggca c.*2100
. . . . . . g.94274
aatgtttcctgatcagatggcaatttgtgatttaggtaaatttgaatttgatttgcttat c.*2160
. . . . . . g.94334
agtctactggtctgtgtacctatgttttgtttttcaaaaaagtttacatccctaaatgaa c.*2220
. . . . . . g.94394
ttagtcacatatatttaggagaagatgcctaatttggtatttcttaatagtgaatttttt c.*2280
. . . . . . g.94454
tttttcttgagacagagtttcactcttgttgcccaggctggagtgcaatggcacgatctc c.*2340
. . . . . . g.94514
ggctcaccgcaacctctgcctcctgggttcaagcgattctcctgcctcggcgttccgagt c.*2400
. . . . . . g.94574
agctgggattacaggcatgcaccaccacgcctggctaattttgtatttttagtagagatg c.*2460
. . . . . . g.94634
gggtttctccatgttggtcaggctggtcttgaactgccaacttcaggtgatctgcctgcc c.*2520
. . . . . . g.94694
ttggcctcccaaagtgctgggattacaggcgtgagccaccgctcctggccagtagtgaat c.*2580
. . . . . . g.94754
ttttaaacacagaaaatctaaaattttgtggaaatattttaaatattgcaccttaataca c.*2640
. . . . . . g.94814
aggtatccagctcctaaccttaactagggaatatctattaaaataagcataatgttctgg c.*2700
. . . . . . g.94874
actagagtattccttatctagttggttatggatttgaacatgtaccttggtttagatact c.*2760
. . . . . . g.94934
ttgaaaatagaagtactgaatagcctctagggaacttgagtggcctttccctccccctgc c.*2820
. . . . . . g.94994
ccccccccccccccccccgttttaaaagatcagtagtctctattcaaacttttaaaatgt c.*2880
. . . . . . g.95054
cgtggtattgtaacaatatatttgatgaaagaaggttacagactcccctgaagaaccagc c.*2940
. . . . . . g.95114
tttcctacgctttttatttttctaacttgtctaacctgattttaaaatgactgcaattcc c.*3000
. . . . . . g.95174
agactaaaaacatgcttcagccctgtttcaagacattatgcttcttttaacagtccaaat c.*3060
. . . . . . g.95234
tagtagttttatttttcttctaaatctttgtttcacacttgtaaaatcttgggaaggagg c.*3120
. . . . . . g.95294
ttcttaaaactttgccaggaattgttacccatttccaaaaacagtttattatgttcaaaa c.*3180
. . . . . . g.95354
accaccatatctttgagggactgtttgaaaggggagagggcaacgcgggaaataattcac c.*3240
. . . . . . g.95414
tctgcgcaccggaactattgtagttcaggacttccagctactgtatttagatgttgggtt c.*3300
. . . . . . g.95474
tgaatatacagatttcttttcaatacctgtaaatatggctatattcttgtatttgtacgg c.*3360
. . . . . . g.95534
gagtgtacaaaatgacactgaaaagtaataaatatgttttgactatattgtgcagttatt c.*3420
. . . . . . g.95594
tcagaactgtgttttgaaagtcttagaatgcataatttgcatttgagtaaggaaatttaa c.*3480
. . g.95620
aatacagattactgctgagattttaa c.*3506
(downstream sequence)
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