(used for variant description)
(last modified August 17, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005096.3 in the ZMYM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016407.1, covering ZMYM3 transcript NM_005096.3.
(upstream sequence)
g.5556
attgaggg c.-181
. . . . . . g.5616
gggcggacgccgagggggtgaacacgagtgggaagctaagagagacacggggagggggag c.-121
. . . . . . g.5676
gggaccgggaaccatttgaatgagaggaggggatcacgggtagagtgggctccaggaggt c.-61
. . . . . | 02 . g.6942
agggcgagcagggtgtgacgggggccagactcttgagccag | tacatatccagccatactc c.-1
. . . . . . g.7002
ATGGACCCCAGTGATTTCCCCAGTCCATTTGACCCATTGACCCTGCCAGAGAAGCCCCTG c.60
M D P S D F P S P F D P L T L P E K P L p.20
. . . . . . g.7062
GCTGGAGACCTACCAGTAGACATGGAATTTGGAGAGGATCTACTGGAATCCCAGACTGCC c.120
A G D L P V D M E F G E D L L E S Q T A p.40
. . . . . . g.7122
CCAACTCGAGGATGGGCCCCCCCTGGCCCTTCTCCATCCTCGGGAGCCCTGGACCTGCTT c.180
P T R G W A P P G P S P S S G A L D L L p.60
. . . . . . g.7182
GATACCCCTGCTGGCCTGGAAAAAGACCCTGGAGTCCTGGATGGAGCCACTGAGTTGCTG c.240
D T P A G L E K D P G V L D G A T E L L p.80
. . . . . . g.7242
GGGCTGGGGGGGCTGCTCTATAAAGCCCCCTCTCCCCCGGAGGTGGACCACGGTCCTGAG c.300
G L G G L L Y K A P S P P E V D H G P E p.100
. . . . . . g.7302
GGAACCCTGGCATGGGATGCAGGAGATCAGACCCTAGAGCCTGGACCAGGGGGCCAGACC c.360
G T L A W D A G D Q T L E P G P G G Q T p.120
. . . . . . g.7362
CCTGAGGTGGTACCACCTGATCCAGGGGCTGGGGCAAATTCCTGTTCACCTGAGGGGCTA c.420
P E V V P P D P G A G A N S C S P E G L p.140
. . . . . . g.7422
CTAGAGCCTTTGGCTCCAGATTCTCCAATAACACTGCAGTCCCCACATATTGAAGAGGAG c.480
L E P L A P D S P I T L Q S P H I E E E p.160
. . . . . . g.7482
GAGACCACCTCCATAGCTACTGCAAGAAGGGGCTCCCCTGGGCAGGAGGAGGAGCTTCCC c.540
E T T S I A T A R R G S P G Q E E E L P p.180
. . . . . . g.7542
CAAGGGCAGCCACAGAGCCCAAATGCCCCGCCTAGCCCTTCAGTGGGAGAGACTCTGGGG c.600
Q G Q P Q S P N A P P S P S V G E T L G p.200
. . . . . . g.7602
GATGGAATCAACAGTTCTCAGACCAAACCTGGGGGCTCTAGCCCCCCTGCACATCCTTCC c.660
D G I N S S Q T K P G G S S P P A H P S p.220
| 03. . . . . | 04 . g.8962
TTGCCAG | GAGATGGCCTGACTGCGAAGGCGAGTGAGAAGCCGCCTGAACGG | AAGAGAAGC c.720
L P G | D G L T A K A S E K P P E R | K R S p.240
. . . . . | 05 g.9473
GAGCGCGTTAGGAGAGCAGAACCTCCAAAACCTGAGGTTGTAGATTCCACTGAGAGCA | TT c.780
E R V R R A E P P K P E V V D S T E S I | p.260
. . . . . . g.9533
CCAGTGTCAGATGAGGATTCTGATGCCATGGTAGATGACCCCAATGATGAGGACTTTGTG c.840
P V S D E D S D A M V D D P N D E D F V p.280
. . . . . . g.9593
CCATTCCGGCCCCGGCGCTCTCCTCGCATGTCCCTACGCTCAAGTGTGTCACAAAGGGCC c.900
P F R P R R S P R M S L R S S V S Q R A p.300
. . . . . . g.9653
GGGCGCTCTGCAGTGGGCACCAAGATGACTTGTGCACATTGCCGGACACCACTGCAGAAG c.960
G R S A V G T K M T C A H C R T P L Q K p.320
. . . . . . g.9713
GGGCAGACTGCCTATCAGCGCAAGGGGCTGCCTCAGCTCTTCTGCTCGTCATCCTGCCTC c.1020
G Q T A Y Q R K G L P Q L F C S S S C L p.340
. . . . . | 06 . g.10001
ACCACTTTCTCCAAGAAGCCCTCGGGCAAAAAGACCTGTACCTTCTGCAAGAA | GGAGATC c.1080
T T F S K K P S G K K T C T F C K K | E I p.360
. . . . . . g.10061
TGGAACACCAAGGACTCGGTTGTGGCGCAGACTGGTTCTGGAGGCTCCTTCCATGAGTTC c.1140
W N T K D S V V A Q T G S G G S F H E F p.380
. . . . . . g.10121
TGCACATCCGTCTGTCTCTCCCTGTATGAGGCCCAGCAGCAGCGCCCGATCCCCCAGTCT c.1200
C T S V C L S L Y E A Q Q Q R P I P Q S p.400
. . . . . | 07 . g.10527
GGGGATCCCGCCGACGCTACTCGCTGCAGCATATGCCAGAAGACTGGAGAG | GTCCTGCAC c.1260
G D P A D A T R C S I C Q K T G E | V L H p.420
. . . . . . g.10587
GAGGTCAGCAATGGCAGCGTGGTACACCGGCTCTGCAGCGATTCTTGCTTCTCCAAATTC c.1320
E V S N G S V V H R L C S D S C F S K F p.440
. . . . . . g.10647
CGGGCCAACAAGGGACTGAAAACCAACTGTTGTGACCAGTGTGGGGCTTACATCTACACC c.1380
R A N K G L K T N C C D Q C G A Y I Y T p.460
. . . . . . g.10707
AAGACCGGGAGTCCTGGCCCTGAGCTCCTCTTCCACGAGGGCCAACAAAAGCGGTTCTGC c.1440
K T G S P G P E L L F H E G Q Q K R F C p.480
. . . | 08 . . . g.11058
AACACAACCTGCTTGGGGGCGTACAAGAAG | AAAAACACACGTGTGTACCCATGTGTCTGG c.1500
N T T C L G A Y K K | K N T R V Y P C V W p.500
. . . . . . g.11118
TGCAAGACCCTGTGTAAGAACTTTGAGATGCTATCACATGTGGATCGTAATGGCAAGACC c.1560
C K T L C K N F E M L S H V D R N G K T p.520
. . . . . . g.11178
AGCTTGTTCTGTTCCCTGTGCTGTACCACTTCTTACAAAGTGAAGCAGGCAGGGCTCACT c.1620
S L F C S L C C T T S Y K V K Q A G L T p.540
| 09 . . . . . . g.11455
G | GCCCTCCCCGACCCTGCAGCTTCTGCCGCCGCAGCCTCTCTGACCCCTGTTACTACAAC c.1680
G | P P R P C S F C R R S L S D P C Y Y N p.560
. . . . . | 10. g.11676
AAGGTTGACCGCACAGTCTACCAGTTCTGCAGCCCCAGCTGCTGGACCAAGTTCCAG | CGC c.1740
K V D R T V Y Q F C S P S C W T K F Q | R p.580
. . . . . . g.11736
ACAAGCCCTGAGGGGGGCATTCACCTGAGCTGTCACTACTGTCACAGCCTCTTCAGTGGC c.1800
T S P E G G I H L S C H Y C H S L F S G p.600
. . | 11 . . . . g.11921
AAGCCTGAGGTCTTGGACTGGCAG | GACCAAGTGTTCCAGTTCTGCTGCCGTGATTGCTGT c.1860
K P E V L D W Q | D Q V F Q F C C R D C C p.620
. . . . . . g.11981
GAGGACTTCAAGCGGCTTCGGGGTGTGGTGTCCCAGTGTGAGCACTGTCGGCAGGAGAAA c.1920
E D F K R L R G V V S Q C E H C R Q E K p.640
. . . . . | 12 . g.12296
CTCTTGCATGAGAAACTCCGATTCAGCGGAGTGGAGAAAAGCTTCTGCAGCGAAG | GCTGT c.1980
L L H E K L R F S G V E K S F C S E G | C p.660
. . . . . . g.12356
GTGCTGCTGTACAAACAGGACTTCACTAAGAAGCTGGGCTTGTGCTGTATCACTTGTACT c.2040
V L L Y K Q D F T K K L G L C C I T C T p.680
. . . . . . g.12416
TACTGCTCCCAGACCTGCCAGCGCGGAGTCACCGAGCAACTGGATGGCAGCACCTGGGAC c.2100
Y C S Q T C Q R G V T E Q L D G S T W D p.700
. . . . | 13 . g.12699
TTCTGCAGTGAGGACTGTAAGAGCAAGTACCTGCTGTGGTACTGCAAG | GCTGCCCGGTGC c.2160
F C S E D C K S K Y L L W Y C K | A A R C p.720
. . . . . . g.12759
CATGCGTGTAAGCGCCAGGGGAAGCTGCTGGAGACCATCCACTGGCGTGGGCAGATCCGT c.2220
H A C K R Q G K L L E T I H W R G Q I R p.740
. . . . . . g.12819
CATTTCTGCAACCAGCAGTGTCTTCTGCGTTTCTATAGCCAGCAGAACCAACCCAACCTG c.2280
H F C N Q Q C L L R F Y S Q Q N Q P N L p.760
. . . | 14 . . . g.13531
GATACCCAGAGTGGGCCCGAGAGCCTCCTGAACA | GTCAGTCTCCTGAGTCAAAACCCCAG c.2340
D T Q S G P E S L L N S | Q S P E S K P Q p.780
. . . . . . g.13591
ACACCCTCTCAAACCAAAGTGGAGAACAGCAACACAGTGAGGACCCCAGAGGAAAATGGG c.2400
T P S Q T K V E N S N T V R T P E E N G p.800
. | 15 . . . . . g.13733
AATTTGGGCAAG | ATCCCTGTGAAGACCCGATCAGCTCCCACTGCTCCCACCCCTCCACCC c.2460
N L G K | I P V K T R S A P T A P T P P P p.820
. . . . . . g.13793
CCACCACCCCCAGCAACACCCCGCAAAAACAAGGCTGCCATGTGTAAGCCACTGATGCAG c.2520
P P P P A T P R K N K A A M C K P L M Q p.840
. . . . . | 16 . g.14107
AATCGGGGCGTCTCCTGCAAGGTGGAGATGAAGTCCAAAGGAAGTCAAACAG | AAGAGTGG c.2580
N R G V S C K V E M K S K G S Q T E | E W p.860
. . . . . . g.14167
AAGCCACAGGTGATCGTGCTGCCCATCCCAGTGCCCATCTTCGTGCCAGTGCCTATGCAT c.2640
K P Q V I V L P I P V P I F V P V P M H p.880
. . . . | 17 . . g.14370
CTGTACTGCCAGAAAGTCCCGGTGCCTTTCTCGATGCCTATCCCG | GTGCCTGTGCCCATG c.2700
L Y C Q K V P V P F S M P I P | V P V P M p.900
. . . . . . g.14430
TTCTTGCCCACTACCTTGGAGAGCACAGACAAGATTGTAGAGACCATTGAGGAGCTGAAG c.2760
F L P T T L E S T D K I V E T I E E L K p.920
. . . . . . g.14490
GTGAAGATCCCTTCCAACCCCTTGGAGGCCGACATCCTGGCTATGGCAGAAATGATTGCA c.2820
V K I P S N P L E A D I L A M A E M I A p.940
. . . . | 18 . . g.14732
GAGGCTGAGGAGTTAGACAAGGCCTCATCTGACCTTTGTG | ATCTTGTGAGCAACCAGAGT c.2880
E A E E L D K A S S D L C D | L V S N Q S p.960
. . . . . . g.14792
GCAGAGGGACTCCTGGAAGACTGTGACCTGTTTGGGCCTGCTCGAGATGATGTCCTGGCC c.2940
A E G L L E D C D L F G P A R D D V L A p.980
. . . . . . g.14852
ATGGCAGTCAAGATGGCCAATGTCTTGGATGAGCCTGGGCAAGACTTGGAGGCAGACTTC c.3000
M A V K M A N V L D E P G Q D L E A D F p.1000
| 19. . . . . . g.15357
CCTAAGA | ATCCTCTGGACATTAATCCCAGTGTAGACTTCCTCTTTGATTGTGGCCTGGTA c.3060
P K N | P L D I N P S V D F L F D C G L V p.1020
. . . . . | 20 . g.15736
GGGCCTGAGGATGTGTCTACTGAACAAGACCTTCCCCGAACCATGAGGAAG | GGTCAAAAG c.3120
G P E D V S T E Q D L P R T M R K | G Q K p.1040
. . . . . . g.15796
CGGCTGGTGCTTTCCGAAAGCTGCTCCCGGGACTCCATGAGCAGTCAGCCTAGTTGTACC c.3180
R L V L S E S C S R D S M S S Q P S C T p.1060
. . . . . . g.15856
GGGCTCAACTATTCATATGGTGTCAATGCTTGGAAGTGCTGGGTGCAGTCAAAATATGCC c.3240
G L N Y S Y G V N A W K C W V Q S K Y A p.1080
. . . . | 21 . . g.16237
AATGGAGAAACCAGCAAGGGTGATGAGCTGCGCTTTGGCC | CCAAACCCATGCGTATCAAA c.3300
N G E T S K G D E L R F G P | K P M R I K p.1100
. . . . . . g.16297
GAGGATATTCTCGCCTGCTCAGCTGCTGAGCTCAACTACGGTCTGGCCCAGTTTGTGAGA c.3360
E D I L A C S A A E L N Y G L A Q F V R p.1120
. . . . . . g.16357
GAAATCACTCGGCCCAATGGTGAACGATATGAACCTGACAGTATCTACTATTTGTGTCTT c.3420
E I T R P N G E R Y E P D S I Y Y L C L p.1140
. | 22 . . . . . g.17161
GGCATCCAGCAG | TACTTGCTGGAAAATAACCGGATGGTGAACATTTTCACGGACCTTTAC c.3480
G I Q Q | Y L L E N N R M V N I F T D L Y p.1160
. . . . . . g.17221
TACCTGACTTTTGTTCAAGAACTCAACAAGTCTCTGAGTACCTGGCAGCCCACACTCCTC c.3540
Y L T F V Q E L N K S L S T W Q P T L L p.1180
| 23. . . . . . g.17826
CCCAACA | ATACGGTGTTCTCTCGAGTGGAGGAGGAGCACCTCTGGGAGTGTAAGCAACTG c.3600
P N N | T V F S R V E E E H L W E C K Q L p.1200
. . . . . . g.17886
GGGGTCTACTCGCCCTTTGTCCTCCTCAACACCCTCATGTTCTTCAACACTAAGTTTTTT c.3660
G V Y S P F V L L N T L M F F N T K F F p.1220
. . . . . . g.17946
GGGCTGCAGACAGCTGAGGAACACATGCAACTCTCCTTCACCAATGTGGTGCGGCAGTCC c.3720
G L Q T A E E H M Q L S F T N V V R Q S p.1240
. . . . . . g.18006
CGCAAGTGTACCACCCCTCGGGGCACCACCAAGGTGGTGAGCATCCGCTACTATGCCCCA c.3780
R K C T T P R G T T K V V S I R Y Y A P p.1260
. . | 24 . . . . g.18891
GTCCGCCAGAGGAAAGGGCGAG | ACACGGGTCCTGGAAAACGGAAGAGAGAAGATGAAGCC c.3840
V R Q R K G R D | T G P G K R K R E D E A p.1280
. . . . . . g.18951
CCTATCTTAGAGCAGCGTGAGAACCGCATGAATCCCCTCCGCTGCCCTGTCAAGTTCTAT c.3900
P I L E Q R E N R M N P L R C P V K F Y p.1300
. . | 25 . . . . g.19129
GAATTCTATCTCTCAAAATG | TCCTGAAAGCCTCCGGACTCGCAACGATGTGTTCTACCTG c.3960
E F Y L S K C | P E S L R T R N D V F Y L p.1320
. . . . . . g.19189
CAACCTGAACGGTCCTGCATCGCCGAGTCACCTCTCTGGTATTCTGTGATCCCCATGGAC c.4020
Q P E R S C I A E S P L W Y S V I P M D p.1340
. . . . . . g.19249
CGCAGCATGTTGGAGAGCATGCTCAATCGCATCCTGGCTGTGCGCGAGATTTATGAGGAA c.4080
R S M L E S M L N R I L A V R E I Y E E p.1360
. . . g.19282
CTGGGTCGTCCTGGGGAGGAAGACCTGGACTGA c.4113
L G R P G E E D L D X p.1370
. . . . . . g.19342
gctcgtgtgccatccatatccatctttcacatcaatgtctgtcctgtggccatgtccctc c.*60
. . . . . . g.19402
agggtgacaggcccaggaaccaatgctactcattctgaagggccctgactgctcctttcc c.*120
. . . . . . g.19462
gctcacccattccctgccttctctaggaaccctggcttttatcttcttccgtaccacttg c.*180
. . . . . . g.19522
acaaccatggggccctggtcttctgtactcaggggctggtctcccagtgatgggcaaaag c.*240
. . . . . . g.19582
ccagcttgcccgttttctttatgcttcagagtaaacccctccttctgggtccagactctg c.*300
. . . . . . g.19642
ggtggagtgttaatagctctggtgatcctgttggctttgggtttcctgacccatcccgca c.*360
. . . . . . g.19702
taggtagagcctcttgttcctaggcatgacctagggaaaaacccagctgccttctctgcc c.*420
. . . . . . g.19762
ctgtgcccactcccttctctactcttccccagcaccatgccaaaaggtcttatctgaaag c.*480
. . . . . . g.19822
gtaagaaataaacaatgaaagcgatgaggggaccatttacataaaacacagagcttagac c.*540
. . . . . . g.19882
actcttcccctcctatgaaataattggttgttggcaccatctcaccaccgcatatccctc c.*600
. . . . . . g.19942
accccctcggcaagcaccaatccttggtgctgccgtttttaaaatcttccaaatgccttt c.*660
. . . . . . g.20002
ttttcctcagaggcagagaatgactaagtacggggagcagactcctgttgtgcagactcc c.*720
. . . . . . g.20062
tgtccccttggtttctgtgtttgtctctctgccatcttaggttgccatgagccatggtgt c.*780
. . . . . . g.20122
caacatgcttagccccctctgtaactgcctccctttagttcaatggacagacctcccaag c.*840
. . . . . . g.20182
gcaaaaactaccttctgacttgggttgaggctgggttcccctctattgttcccctatcat c.*900
. . . . . . g.20242
aagagctaggccaagcctatgggaccttgagtcatgcaggatgggatctgtggtcaaagg c.*960
. . . . . . g.20302
acaggcgaggagctgtgggcgcagggcctgccgccactgcctacatcttctctcttcccc c.*1020
. . . . . . g.20362
atcttgcattggaggtcccagaaaacaattagcttctggcaaagggggtacccacttctt c.*1080
. . . . . . g.20422
tccctgttgactttgctgtttcccaggctcctttttgtgtttttataactgtcaccagtt c.*1140
. . . . . . g.20482
agccactgtttaaattgtatatattgttctgaggcgcctggcctgtcccttcagtgagcc c.*1200
. . . . . . g.20542
atgcccacccttgtgttgtagtgagaagctgttgtcacgactaaccttctgtctctgaaa c.*1260
. . . g.20574
ttgtttgtttcaaataaagagttaaaattgtc c.*1292
(downstream sequence)
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