Canonical Allele Identifier: CA2466723488

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532797G= , CM000685.2:g.154532797G=	GRCh38
NC_000023.10:g.153761012G= , CM000685.1:g.153761012G=	GRCh37
NC_000023.9:g.153414206G=	NCBI36
NG_009015.2:g.19776C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001360016.2:c.1057C= MANE Select	NP_001346945.1:p.Pro353=
ENST00000393562.10:c.1057C= MANE Select	ENSP00000377192.3:p.Pro353=
NM_000402.4:c.1147C=	NP_000393.4:p.Pro383=
NM_001042351.2:c.1057C=	NP_001035810.1:p.Pro353=
NM_001042351.3:c.1057C=	NP_001035810.1:p.Pro353=
ENST00000369620.6:c.1195C=	ENSP00000358633.2:p.Pro399=
ENST00000393562.6:c.1147C=	ENSP00000377192.2:p.Pro383=
ENST00000393564.6:c.1057C=	ENSP00000377194.2:p.Pro353=
ENST00000393564.7:c.1057C=	ENSP00000377194.2:p.Pro353=
ENST00000439227.6:c.1060C=	ENSP00000395599.2:p.Pro354=
ENST00000490651.1:n.278C=
ENST00000621232.4:c.1057C=	ENSP00000483686.1:p.Pro353=
ENST00000696420.1:c.1057C=	ENSP00000512615.1:p.Pro353=
ENST00000696421.1:c.1057C=	ENSP00000512616.1:p.Pro353=
ENST00000696422.1:c.920C=
ENST00000696423.1:c.923C=
ENST00000696424.1:c.909C=	ENSP00000512619.1:n.909C=
ENST00000696425.1:c.870C=	ENSP00000512620.1:p.Cys290=
ENST00000696426.1:c.*517C=	ENSP00000512621.1:n.*517C=
ENST00000696427.1:c.*17C=	ENSP00000512622.1:n.*17C=
ENST00000696428.1:c.*899C=	ENSP00000512623.1:n.*899C=
ENST00000696429.1:c.1057C=	ENSP00000512624.1:p.Pro353=
ENST00000696430.1:c.1057C=	ENSP00000512625.1:p.Pro353=
XM_005274657.2:c.1150C=	XP_005274714.1:p.Pro384=
XM_005274658.2:c.1060C=	XP_005274715.1:p.Pro354=
XM_011531132.1:c.963C=	XP_011529434.1:p.Cys321=