(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000479.3 in the AMH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012190.1, covering AMH transcript NM_000479.3.
(upstream sequence)
. . . g.5039
gcatgttgacacatcaggcccagctctatcactggggag c.-181
. . . . . . g.5099
ggagataggctgccagggacagaaagggctctttgagaaggccactctgcctggagtggg c.-121
. . . . . . g.5159
ggcgccgggcactgtcccccaaggtcgcggcagaggagataggggtctgtcctgcacaaa c.-61
. . . . . . g.5219
caccccaccttccactcggctcacttaaggcaggcagcccagcccctggcagcacccacg c.-1
. . . . . . g.5279
ATGCGGGACCTGCCTCTCACCAGCCTGGCCCTAGTGCTGTCTGCCCTGGGGGCTCTGCTG c.60
M R D L P L T S L A L V L S A L G A L L p.20
. . . . . . g.5339
GGGACTGAGGCCCTCAGAGCAGAGGAGCCAGCTGTGGGCACCAGTGGCCTCATCTTCCGA c.120
G T E A L R A E E P A V G T S G L I F R p.40
. . . . . . g.5399
GAAGACTTGGACTGGCCTCCAGGCAGCCCACAAGAGCCTCTGTGCCTGGTGGCACTGGGC c.180
E D L D W P P G S P Q E P L C L V A L G p.60
. . . . . . g.5459
GGGGACAGCAATGGCAGCAGCTCCCCCCTGCGGGTGGTGGGGGCTCTAAGCGCCTATGAG c.240
G D S N G S S S P L R V V G A L S A Y E p.80
. . . . . . g.5519
CAGGCCTTCCTGGGGGCCGTGCAGAGGGCCCGCTGGGGCCCCCGAGACCTGGCCACCTTC c.300
Q A F L G A V Q R A R W G P R D L A T F p.100
. . . . . . g.5579
GGGGTCTGCAACACCGGTGACAGGCAGGCTGCCTTGCCCTCTCTACGGCGGCTGGGGGCC c.360
G V C N T G D R Q A A L P S L R R L G A p.120
. . . . . | 02 . g.6231
TGGCTGCGGGACCCTGGGGGGCAGCGCCTGGTGGTCCTACACCTGGAGGAAG | TGACCTGG c.420
W L R D P G G Q R L V V L H L E E V | T W p.140
. . . . . . g.6291
GAGCCAACACCCTCGCTGAGGTTCCAGGAGCCCCCGCCTGGAGGAGCTGGCCCCCCAGAG c.480
E P T P S L R F Q E P P P G G A G P P E p.160
. . . . . . g.6351
CTGGCGCTGCTGGTGCTGTACCCTGGGCCTGGCCCTGAGGTCACTGTGACGAGGGCTGGG c.540
L A L L V L Y P G P G P E V T V T R A G p.180
. | 03 . . . . . g.6583
CTGCCGGGTGCCCAG | AGCCTCTGCCCCTCCCGAGACACCCGCTACCTGGTGTTAGCGGTG c.600
L P G A Q | S L C P S R D T R Y L V L A V p.200
. . . . . . g.6643
GACCGCCCTGCGGGGGCCTGGCGCGGCTCCGGGCTGGCCTTGACCCTGCAGCCCCGCGGA c.660
D R P A G A W R G S G L A L T L Q P R G p.220
| 04 . . . . . . g.6791
GAGG | ACTCCCGGCTGAGTACCGCCCGGCTGCAGGCACTGCTGTTCGGCGACGACCACCGC c.720
E D | S R L S T A R L Q A L L F G D D H R p.240
. . . . . . g.6851
TGCTTCACACGGATGACCCCGGCCCTGCTCCTGCTGCCGCGGTCCGAGCCCGCGCCGCTG c.780
C F T R M T P A L L L L P R S E P A P L p.260
. . . . | 05 . . g.7001
CCTGCGCACGGCCAGCTGGACACCGTGCCCTTCCCGCCGCCCAG | GCCATCCGCGGAACTC c.840
P A H G Q L D T V P F P P P R | P S A E L p.280
. . . . . . g.7061
GAGGAGTCGCCACCCAGCGCAGACCCCTTCCTGGAGACGCTCACGCGCCTGGTGCGGGCG c.900
E E S P P S A D P F L E T L T R L V R A p.300
. . . . . . g.7121
CTGCGGGTCCCCCCGGCCCGGGCCTCCGCGCCGCGCCTGGCCCTGGATCCGGACGCGCTG c.960
L R V P P A R A S A P R L A L D P D A L p.320
. . . . . . g.7181
GCCGGCTTCCCGCAGGGCCTAGTCAACCTGTCGGACCCCGCGGCGCTGGAGCGCCTACTC c.1020
A G F P Q G L V N L S D P A A L E R L L p.340
. . . . . . g.7241
GACGGCGAGGAGCCGCTGCTGCTGCTGCTGAGGCCCACTGCGGCCACCACCGGGGATCCT c.1080
D G E E P L L L L L R P T A A T T G D P p.360
. . . . . . g.7301
GCGCCCCTGCACGACCCCACGTCGGCGCCGTGGGCCACGGCCCTGGCGCGCCGCGTGGCT c.1140
A P L H D P T S A P W A T A L A R R V A p.380
. . . . . . g.7361
GCTGAACTGCAAGCGGCGGCTGCCGAGCTGCGAAGCCTCCCGGGTCTGCCTCCGGCCACA c.1200
A E L Q A A A A E L R S L P G L P P A T p.400
. . . . . . g.7421
GCCCCGCTGCTGGCGCGCCTGCTCGCGCTCTGCCCAGGTGGCCCCGGCGGCCTCGGCGAT c.1260
A P L L A R L L A L C P G G P G G L G D p.420
. . . . . . g.7481
CCCCTGCGAGCGCTGCTGCTCCTGAAGGCGCTGCAGGGCCTGCGCGTGGAGTGGCGCGGG c.1320
P L R A L L L L K A L Q G L R V E W R G p.440
. . . . . . g.7541
CGGGATCCGCGCGGGCCGGGTCGGGCACAGCGCAGCGCGGGGGCCACCGCCGCCGACGGG c.1380
R D P R G P G R A Q R S A G A T A A D G p.460
. . . . . . g.7601
CCGTGCGCGCTGCGCGAGCTCAGCGTAGACCTCCGCGCCGAGCGCTCCGTACTCATCCCC c.1440
P C A L R E L S V D L R A E R S V L I P p.480
. . . . . . g.7661
GAGACCTACCAGGCCAACAATTGCCAGGGCGTGTGCGGCTGGCCTCAGTCCGACCGCAAC c.1500
E T Y Q A N N C Q G V C G W P Q S D R N p.500
. . . . . . g.7721
CCGCGCTACGGCAACCACGTGGTGCTGCTGCTGAAGATGCAGGTCCGTGGGGCCGCCCTG c.1560
P R Y G N H V V L L L K M Q V R G A A L p.520
. . . . . . g.7781
GCGCGCCCACCCTGCTGCGTGCCCACCGCCTACGCGGGCAAGCTGCTCATCAGCCTGTCG c.1620
A R P P C C V P T A Y A G K L L I S L S p.540
. . . . . . g.7841
GAGGAGCGCATCAGCGCGCACCACGTGCCCAACATGGTGGCCACCGAGTGTGGCTGCCGG c.1680
E E R I S A H H V P N M V A T E C G C R p.560
g.7844
TGA c.1683
X p.560
. . . . . . g.7904
cccctgcgccgcgcggactcctgccccgagggtccggacgcgccccagctcgcgcccctt c.*60
. . . . . g.7960
cccatatttattcggaccccaagcatcgccccaataaagaccagcaagcaaccggc c.*116
(downstream sequence)
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