Canonical Allele Identifier: CA2580573387

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[154532390G>A;154532403C>G] , CM000685.2:g.[154532390G>A;154532403C>G]	GRCh38
NC_000023.10:g.[153760605G>A;153760618C>G] , CM000685.1:g.[153760605G>A;153760618C>G]	GRCh37
NC_000023.9:g.[153413799G>A;153413812C>G]	NCBI36
NG_009015.2:g.[20170G>C;20183C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.[1347G>C;1360C>T]	ENSP00000377194.2:p.[Gln449His;Arg454Cys]
ENST00000439227.6:c.[1350G>C;1363C>T]	ENSP00000395599.2:p.[Gln450His;Arg455Cys]
ENST00000696420.1:c.[1347G>C;1360C>T]	ENSP00000512615.1:p.[Gln449His;Arg454Cys]
ENST00000696421.1:c.[1347G>C;1360C>T]	ENSP00000512616.1:p.[Gln449His;Arg454Cys]
ENST00000696422.1:c.[1210G>C;1223C>T]
ENST00000696423.1:c.[1213G>C;1226C>T]
ENST00000696424.1:c.[1199G>C;1212C>T]	ENSP00000512619.1:n.[1199G>C;1212C>T]
ENST00000696425.1:c.[*260G>C;*273C>T]	ENSP00000512620.1:n.[*260G>C;*273C>T]
ENST00000696426.1:c.[*807G>C;*820C>T]	ENSP00000512621.1:n.[*807G>C;*820C>T]
ENST00000696427.1:c.[*307G>C;*320C>T]	ENSP00000512622.1:n.[*307G>C;*320C>T]
ENST00000696428.1:c.[*1189G>C;*1202C>T]	ENSP00000512623.1:n.[*1189G>C;*1202C>T]
ENST00000696429.1:c.[1347G>C;1360C>T]	ENSP00000512624.1:p.[Gln449His;Arg454Cys]
ENST00000696430.1:c.[1347G>C;1360C>T]	ENSP00000512625.1:p.[Gln449His;Arg454Cys]
ENST00000393562.10:c.[1347G>C;1360C>T] MANE Select	ENSP00000377192.3:p.[Gln449His;Arg454Cys]
ENST00000369620.6:c.[1485G>C;1498C>T]	ENSP00000358633.2:p.[Gln495His;Arg500Cys]
ENST00000393562.6:c.[1437G>C;1450C>T]	ENSP00000377192.2:p.[Gln479His;Arg484Cys]
ENST00000393564.6:c.[1347G>C;1360C>T]	ENSP00000377194.2:p.[Gln449His;Arg454Cys]
ENST00000490651.1:n.[568G>C;581C>T]
ENST00000621232.4:c.[1347G>C;1360C>T]	ENSP00000483686.1:p.[Gln449His;Arg454Cys]
NM_000402.4:c.[1437G>C;1450C>T]	NP_000393.4:p.[Gln479His;Arg484Cys]
NM_001042351.2:c.[1347G>C;1360C>T]	NP_001035810.1:p.[Gln449His;Arg454Cys]
XM_005274657.2:c.[1440G>C;1453C>T]	XP_005274714.1:p.[Gln480His;Arg485Cys]
XM_005274658.2:c.[1350G>C;1363C>T]	XP_005274715.1:p.[Gln450His;Arg455Cys]
NM_001360016.2:c.[1347G>C;1360C>T] MANE Select	NP_001346945.1:p.[Gln449His;Arg454Cys]
NM_001042351.3:c.[1347G>C;1360C>T]	NP_001035810.1:p.[Gln449His;Arg454Cys]