(used for variant description)
(last modified April 14, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000030.2 in the AGXT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering AGXT transcript NM_000030.2.
(upstream sequence)
g.5001
c c.-121
. . . . . . g.5061
ggaagcccatccaccaatcctcacctctcacctctgtgtccgccctgctgggaaatattc c.-61
. . . . . . g.5121
caggctttggccaaggccagtgcagccccaggttcccgagcggcaggttgggtgcggacc c.-1
. . . . . . g.5181
ATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATC c.60
M A S H K L L V T P P K A L L K P L S I p.20
. . . . . . g.5241
CCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCC c.120
P N Q L L L G P G P S N L P P R I M A A p.40
. . . . | 02 . . g.5440
GGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAG | ATCATGGACGAGATC c.180
G G L Q M I G S M S K D M Y Q | I M D E I p.60
. . . . . . g.5500
AAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGC c.240
K E G I Q Y V F Q T R N P L T L V I S G p.80
. . . . . . g.5560
TCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTC c.300
S G H C A L E A A L V N V L E P G D S F p.100
. . . . . | 03 g.6901
CTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAG | GA c.360
L V G A N G I W G Q R A V D I G E R I G | p.120
. . . . . . g.6961
GCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAG c.420
A R V H P M T K D P G G H Y T L Q E V E p.140
| 04 . . . . . . g.7661
GAG | GGCCTGGCCCAGCACAAGCCAGTGCTGCTGTTCTTAACCCACGGGGAGTCGTCCACC c.480
E | G L A Q H K P V L L F L T H G E S S T p.160
. . . . | 05 . . g.9250
GGCGTGCTGCAGCCCCTTGATGGCTTCGGGGAACTCTGCCACAG | GTACAAGTGCCTGCTC c.540
G V L Q P L D G F G E L C H R | Y K C L L p.180
. . . . . | 06 . g.10238
CTGGTGGATTCGGTGGCATCCCTGGGCGGGACCCCCCTTTACATGGACCGGCAAG | GCATC c.600
L V D S V A S L G G T P L Y M D R Q G | I p.200
. . . . . . g.10298
GACATCCTGTACTCGGGCTCCCAGAAGGCCCTGAACGCCCCTCCAGGGACCTCGCTCATC c.660
D I L Y S G S Q K A L N A P P G T S L I p.220
. . | 07 . . . . g.11404
TCCTTCAGTGACAAGGCCAA | AAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC c.720
S F S D K A K | K K M Y S R K T K P F S F p.240
. . . . . | 08 . g.12194
TACCTGGACATCAAGTGGCTGGCCAACTTCTGGGGCTGTGACGACCAGCCCAGGAT | GTAC c.780
Y L D I K W L A N F W G C D D Q P R M | Y p.260
. . . . . . g.12254
CATCACACAATCCCCGTCATCAGCCTGTACAGCCTGAGAGAGAGCCTGGCCCTCATTGCG c.840
H H T I P V I S L Y S L R E S L A L I A p.280
| 09 . . . . . . g.13846
GAACAG | GGCCTGGAGAACAGCTGGCGCCAGCACCGCGAGGCCGCGGCGTATCTGCATGGG c.900
E Q | G L E N S W R Q H R E A A A Y L H G p.300
. . . . | 10 . . g.14295
CGCCTGCAGGCACTGGGGCTGCAGCTCTTCGTGAAGGACCCG | GCGCTCCGGCTTCCCACA c.960
R L Q A L G L Q L F V K D P | A L R L P T p.320
. . . . . . g.14355
GTCACCACTGTGGCTGTACCCGCTGGCTATGACTGGAGAGACATCGTCAGCTACGTCATA c.1020
V T T V A V P A G Y D W R D I V S Y V I p.340
. . . . . | 11 . g.14978
GACCACTTCGACATTGAGATCATGGGTGGCCTTGGGCCCTCCACGGGGAAG | GTGCTGCGG c.1080
D H F D I E I M G G L G P S T G K | V L R p.360
. . . . . . g.15038
ATCGGCCTGCTGGGCTGCAATGCCACCCGCGAGAATGTGGACCGCGTGACGGAGGCCCTG c.1140
I G L L G C N A T R E N V D R V T E A L p.380
. . . g.15077
AGGGCGGCCCTGCAGCACTGCCCCAAGAAGAAGCTGTGA c.1179
R A A L Q H C P K K K L X p.392
. . . . . . g.15137
cctgcccactggcacacagctggcactggcacacacctgtcccatgcccaccctgaggga c.*60
. . . . . . g.15197
tcaggagcaaacagaccctgcaaggtcctccaggcctggggacaggaaagccactgaccc c.*120
. . . . . . g.15257
agcccgggaggcagaaccaggcagcctccctggccccaggcagcccttttccctccagtg c.*180
. . . . . . g.15317
gcacctcctggaaacagtccacttgggcgcaaaacccagtgccttccaaatgagctgcag c.*240
. . . . . g.15375
tccccaggccatgagcctcccgggaatgtttaataaagggcctggccaactctcctca c.*298
(downstream sequence)
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