Canonical Allele Identifier: CA2466723587

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533005G= , CM000685.2:g.154533005G=	GRCh38
NC_000023.10:g.153761220G= , CM000685.1:g.153761220G=	GRCh37
NC_000023.9:g.153414414G=	NCBI36
NG_009015.2:g.19568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.988C=	ENSP00000377194.2:p.Arg330=
ENST00000439227.6:c.991C=	ENSP00000395599.2:p.Arg331=
ENST00000696420.1:c.988C=	ENSP00000512615.1:p.Arg330=
ENST00000696421.1:c.988C=	ENSP00000512616.1:p.Arg330=
ENST00000696422.1:c.851C=
ENST00000696423.1:c.854C=
ENST00000696424.1:c.840C=	ENSP00000512619.1:n.840C=
ENST00000696425.1:c.865-203C=	ENSP00000512620.1:n.865-203C=
ENST00000696426.1:c.*448C=	ENSP00000512621.1:n.*448C=
ENST00000696427.1:c.995C=	ENSP00000512622.1:p.Pro332=
ENST00000696428.1:c.*830C=	ENSP00000512623.1:n.*830C=
ENST00000696429.1:c.988C=	ENSP00000512624.1:p.Arg330=
ENST00000696430.1:c.988C=	ENSP00000512625.1:p.Arg330=
ENST00000393562.10:c.988C= MANE Select	ENSP00000377192.3:p.Arg330=
ENST00000369620.6:c.1126C=	ENSP00000358633.2:p.Arg376=
ENST00000393562.6:c.1078C=	ENSP00000377192.2:p.Arg360=
ENST00000393564.6:c.988C=	ENSP00000377194.2:p.Arg330=
ENST00000439227.5:c.991C=	ENSP00000395599.1:p.Arg331=
ENST00000490651.1:n.70C=
ENST00000621232.4:c.988C=	ENSP00000483686.1:p.Arg330=
NM_000402.4:c.1078C=	NP_000393.4:p.Arg360=
NM_001042351.2:c.988C=	NP_001035810.1:p.Arg330=
XM_005274657.2:c.1081C=	XP_005274714.1:p.Arg361=
XM_005274658.2:c.991C=	XP_005274715.1:p.Arg331=
XM_011531132.1:c.958-203C=	XP_011529434.1:n.958-203C=
NM_001360016.2:c.988C= MANE Select	NP_001346945.1:p.Arg330=
NM_001042351.3:c.988C=	NP_001035810.1:p.Arg330=