Canonical Allele Identifier: CA415233655
Gene: G6PD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153760618C>A (hg19) chrX:g.154532403C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154532403C>A , CM000685.2:g.154532403C>A GRCh38
NC_000023.10:g.153760618C>A , CM000685.1:g.153760618C>A GRCh37
NC_000023.9:g.153413812C>A NCBI36
NG_009015.2:g.20170G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.1347G>T ENSP00000377194.2:p.Gln449His
ENST00000439227.6:c.1350G>T ENSP00000395599.2:p.Gln450His
ENST00000696420.1:c.1347G>T ENSP00000512615.1:p.Gln449His
ENST00000696421.1:c.1347G>T ENSP00000512616.1:p.Gln449His
ENST00000696422.1:c.1210G>T
ENST00000696423.1:c.1213G>T
ENST00000696424.1:c.1199G>T ENSP00000512619.1:n.1199G>T
ENST00000696425.1:c.*260G>T ENSP00000512620.1:n.*260G>T
ENST00000696426.1:c.*807G>T ENSP00000512621.1:n.*807G>T
ENST00000696427.1:c.*307G>T ENSP00000512622.1:n.*307G>T
ENST00000696428.1:c.*1189G>T ENSP00000512623.1:n.*1189G>T
ENST00000696429.1:c.1347G>T ENSP00000512624.1:p.Gln449His
ENST00000696430.1:c.1347G>T ENSP00000512625.1:p.Gln449His
ENST00000393562.10:c.1347G>T MANE Select ENSP00000377192.3:p.Gln449His
ENST00000369620.6:c.1485G>T ENSP00000358633.2:p.Gln495His
ENST00000393562.6:c.1437G>T ENSP00000377192.2:p.Gln479His
ENST00000393564.6:c.1347G>T ENSP00000377194.2:p.Gln449His
ENST00000490651.1:n.568G>T
ENST00000621232.4:c.1347G>T ENSP00000483686.1:p.Gln449His
NM_000402.4:c.1437G>T NP_000393.4:p.Gln479His
NM_001042351.2:c.1347G>T NP_001035810.1:p.Gln449His
XM_005274657.2:c.1440G>T XP_005274714.1:p.Gln480His
XM_005274658.2:c.1350G>T XP_005274715.1:p.Gln450His
NM_001360016.2:c.1347G>T MANE Select NP_001346945.1:p.Gln449His
NM_001042351.3:c.1347G>T NP_001035810.1:p.Gln449His
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