(used for variant description)
(last modified August 5, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000402.3 in the G6PD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009015.2, covering G6PD transcript NM_000402.3.
(upstream sequence)
. . g.5582
agaggcaggggctggcctgggatgcgcg c.-121
. . . . . . g.5642
cgcacctgccctcgccccgccccgcccgcacgaggggtggtggccgaggccccgccccgc c.-61
. . . . . . g.5702
acgcctcgcctgaggcgggtccgctcagcccaggcgcccgcccccgcccccgccgattaa c.-1
. . . . . . g.5762
ATGGGCCGGCGGGGCTCAGCCCCCGGAAACGGTCGTACACTTCGGGGCTGCGAGCGCGGA c.60
M G R R G S A P G N G R T L R G C E R G p.20
. . | 02 . . . . g.6447
GGGCGACGACGACGAAGCGCAG | ACAGCGTCATGGCAGAGCAGGTGGCCCTGAGCCGGACC c.120
G R R R R S A D | S V M A E Q V A L S R T p.40
. . . . . . g.6507
CAGGTGTGCGGGATCCTGCGGGAAGAGCTTTTCCAGGGCGATGCCTTCCATCAGTCGGAT c.180
Q V C G I L R E E L F Q G D A F H Q S D p.60
. . . | 03 . . . g.16424
ACACACATATTCATCATCATGGGTGCATCG | GGTGACCTGGCCAAGAAGAAGATCTACCCC c.240
T H I F I I M G A S | G D L A K K K I Y P p.80
| 04 . . . . . g.16579
ACCATCTG | GTGGCTGTTCCGGGATGGCCTTCTGCCCGAAAACACCTTCATCGTGGGCTAT c.300
T I W | W L F R D G L L P E N T F I V G Y p.100
. . . . . | 05. g.17190
GCCCGTTCCCGCCTCACAGTGGCTGACATCCGCAAACAGAGTGAGCCCTTCTTCAAG | GCC c.360
A R S R L T V A D I R K Q S E P F F K | A p.120
. . . . . . g.17250
ACCCCAGAGGAGAAGCTCAAGCTGGAGGACTTCTTTGCCCGCAACTCCTATGTGGCTGGC c.420
T P E E K L K L E D F F A R N S Y V A G p.140
. . . . . . g.17310
CAGTACGATGATGCAGCCTCCTACCAGCGCCTCAACAGCCACATGAATGCCCTCCACCTG c.480
Q Y D D A A S Y Q R L N S H M N A L H L p.160
. . . . . . g.17370
GGGTCACAGGCCAACCGCCTCTTCTACCTGGCCTTGCCCCCGACCGTCTACGAGGCCGTC c.540
G S Q A N R L F Y L A L P P T V Y E A V p.180
. . . | 06 . . . g.18101
ACCAAGAACATTCACGAGTCCTGCATGAGCCAGAT | AGGCTGGAACCGCATCATCGTGGAG c.600
T K N I H E S C M S Q I | G W N R I I V E p.200
. . . . . . g.18161
AAGCCCTTCGGGAGGGACCTGCAGAGCTCTGACCGGCTGTCCAACCACATCTCCTCCCTG c.660
K P F G R D L Q S S D R L S N H I S S L p.220
. . . . . . g.18221
TTCCGTGAGGACCAGATCTACCGCATCGACCACTACCTGGGCAAGGAGATGGTGCAGAAC c.720
F R E D Q I Y R I D H Y L G K E M V Q N p.240
. | 07 . . . . . g.18458
CTCATGGTGCTGAG | ATTTGCCAACAGGATCTTCGGCCCCATCTGGAACCGGGACAACATC c.780
L M V L R | F A N R I F G P I W N R D N I p.260
. . . . . . g.18518
GCCTGCGTTATCCTCACCTTCAAGGAGCCCTTTGGCACTGAGGGTCGCGGGGGCTATTTC c.840
A C V I L T F K E P F G T E G R G G Y F p.280
. . | 08 . . . . g.18943
GATGAATTTGGGATCATCCG | GGACGTGATGCAGAACCACCTACTGCAGATGCTGTGTCTG c.900
D E F G I I R | D V M Q N H L L Q M L C L p.300
. . . . . | 09 . g.19450
GTGGCCATGGAGAAGCCCGCCTCCACCAACTCAGATGACGTCCGTGATGAGAAG | GTCAAG c.960
V A M E K P A S T N S D D V R D E K | V K p.320
. . . . . . g.19510
GTGTTGAAATGCATCTCAGAGGTGCAGGCCAACAATGTGGTCCTGGGCCAGTACGTGGGG c.1020
V L K C I S E V Q A N N V V L G Q Y V G p.340
. . . . . . g.19570
AACCCCGATGGAGAGGGCGAGGCCACCAAAGGGTACCTGGACGACCCCACGGTGCCCCGC c.1080
N P D G E G E A T K G Y L D D P T V P R p.360
. . . . . . g.19630
GGGTCCACCACCGCCACTTTTGCAGCCGTCGTCCTCTATGTGGAGAATGAGAGGTGGGAT c.1140
G S T T A T F A A V V L Y V E N E R W D p.380
| 10 . . . . . . g.19829
G | GGGTGCCCTTCATCCTGCGCTGCGGCAAGGCCCTGAACGAGCGCAAGGCCGAGGTGAGG c.1200
G | V P F I L R C G K A L N E R K A E V R p.400
. . . . . . g.19889
CTGCAGTTCCATGATGTGGCCGGCGACATCTTCCACCAGCAGTGCAAGCGCAACGAGCTG c.1260
L Q F H D V A G D I F H Q Q C K R N E L p.420
. . . . . . g.19949
GTGATCCGCGTGCAGCCCAACGAGGCCGTGTACACCAAGATGATGACCAAGAAGCCGGGC c.1320
V I R V Q P N E A V Y T K M M T K K P G p.440
. . . . . | 11. g.20113
ATGTTCTTCAACCCCGAGGAGTCGGAGCTGGACCTGACCTACGGCAACAGATACAAG | AAC c.1380
M F F N P E E S E L D L T Y G N R Y K | N p.460
. . . . . . g.20173
GTGAAGCTCCCTGACGCCTACGAGCGCCTCATCCTGGACGTCTTCTGCGGGAGCCAGATG c.1440
V K L P D A Y E R L I L D V F C G S Q M p.480
. | 12 . . . . . g.20338
CACTTCGTGCGCAG | CGACGAGCTCCGTGAGGCCTGGCGTATTTTCACCCCACTGCTGCAC c.1500
H F V R S | D E L R E A W R I F T P L L H p.500
. . . . | 13. . g.20495
CAGATTGAGCTGGAGAAGCCCAAGCCCATCCCCTATATTTATGGCAG | CCGAGGCCCCACG c.1560
Q I E L E K P K P I P Y I Y G S | R G P T p.520
. . . . . . g.20555
GAGGCAGACGAGCTGATGAAGAGAGTGGGTTTCCAGTATGAGGGCACCTACAAGTGGGTG c.1620
E A D E L M K R V G F Q Y E G T Y K W V p.540
. g.20573
AACCCCCACAAGCTCTGA c.1638
N P H K L X p.545
. . . . . . g.20633
gccctgggcacccacctccacccccgccacggccaccctccttcccgccgcccgaccccg c.*60
. . . . . . g.20693
agtcgggaggactccgggaccattgacctcagctgcacattcctggccccgggctctggc c.*120
. . . . . . g.20753
caccctggcccgcccctcgctgctgctactacccgagcccagctacattcctcagctgcc c.*180
. . . . . . g.20813
aagcactcgagaccatcctggcccctccagaccctgcctgagcccaggagctgagtcacc c.*240
. . . . . . g.20873
tcctccactcactccagcccaacagaaggaaggaggagggcgcccattcgtctgtcccag c.*300
. . . . . . g.20933
agcttattggccactgggtctcactcctgagtggggccagggtgggagggagggacaagg c.*360
. . . . . . g.20993
gggaggaaaggggcgagcacccacgtgagagaatctgcctgtggccttgcccgccagcct c.*420
. . . . . . g.21053
cagtgccacttgacattccttgtcaccagcaacatctcgagccccctggatgtcccctgt c.*480
. . . . . . g.21113
cccaccaactctgcactccatggccaccccgtgccacccgtaggcagcctctctgctata c.*540
. . . . . . g.21173
agaaaagcagacgcagcagctgggacccctcccaacctcaatgccctgccattaaatccg c.*600
g.21182
caaacagcc c.*609
(downstream sequence)
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