Canonical Allele Identifier: CA2466723446

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532676C= , CM000685.2:g.154532676C=	GRCh38
NC_000023.10:g.153760891C= , CM000685.1:g.153760891C=	GRCh37
NC_000023.9:g.153414085C=	NCBI36
NG_009015.2:g.19897G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1178G=	ENSP00000377194.2:p.Arg393=
ENST00000439227.6:c.1181G=	ENSP00000395599.2:p.Arg394=
ENST00000696420.1:c.1178G=	ENSP00000512615.1:p.Arg393=
ENST00000696421.1:c.1178G=	ENSP00000512616.1:p.Arg393=
ENST00000696422.1:c.1041G=
ENST00000696423.1:c.1044G=
ENST00000696424.1:c.1030G=	ENSP00000512619.1:n.1030G=
ENST00000696425.1:c.*91G=	ENSP00000512620.1:n.*91G=
ENST00000696426.1:c.*638G=	ENSP00000512621.1:n.*638G=
ENST00000696427.1:c.*138G=	ENSP00000512622.1:n.*138G=
ENST00000696428.1:c.*1020G=	ENSP00000512623.1:n.*1020G=
ENST00000696429.1:c.1178G=	ENSP00000512624.1:p.Arg393=
ENST00000696430.1:c.1178G=	ENSP00000512625.1:p.Arg393=
ENST00000393562.10:c.1178G= MANE Select	ENSP00000377192.3:p.Arg393=
ENST00000369620.6:c.1316G=	ENSP00000358633.2:p.Arg439=
ENST00000393562.6:c.1268G=	ENSP00000377192.2:p.Arg423=
ENST00000393564.6:c.1178G=	ENSP00000377194.2:p.Arg393=
ENST00000490651.1:n.399G=
ENST00000621232.4:c.1178G=	ENSP00000483686.1:p.Arg393=
NM_000402.4:c.1268G=	NP_000393.4:p.Arg423=
NM_001042351.2:c.1178G=	NP_001035810.1:p.Arg393=
XM_005274657.2:c.1271G=	XP_005274714.1:p.Arg424=
XM_005274658.2:c.1181G=	XP_005274715.1:p.Arg394=
XM_011531132.1:c.*91G=	XP_011529434.1:n.*91G=
NM_001360016.2:c.1178G= MANE Select	NP_001346945.1:p.Arg393=
NM_001042351.3:c.1178G=	NP_001035810.1:p.Arg393=