Canonical Allele Identifier: CA2466723627

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533126G= , CM000685.2:g.154533126G=	GRCh38
NC_000023.10:g.153761341G= , CM000685.1:g.153761341G=	GRCh37
NC_000023.9:g.153414535G=	NCBI36
NG_009015.2:g.19447C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.867C=	ENSP00000377194.2:p.Val289=
ENST00000439227.6:c.870C=	ENSP00000395599.2:p.Val290=
ENST00000696420.1:c.867C=	ENSP00000512615.1:p.Val289=
ENST00000696421.1:c.867C=	ENSP00000512616.1:p.Val289=
ENST00000696422.1:c.730C=
ENST00000696423.1:c.733C=
ENST00000696424.1:c.719C=	ENSP00000512619.1:p.Ser240=
ENST00000696425.1:c.865-324C=	ENSP00000512620.1:n.865-324C=
ENST00000696426.1:c.*327C=	ENSP00000512621.1:n.*327C=
ENST00000696427.1:c.874C=	ENSP00000512622.1:p.Gln292=
ENST00000696428.1:c.*709C=	ENSP00000512623.1:n.*709C=
ENST00000696429.1:c.867C=	ENSP00000512624.1:p.Val289=
ENST00000696430.1:c.867C=	ENSP00000512625.1:p.Val289=
ENST00000393562.10:c.867C= MANE Select	ENSP00000377192.3:p.Val289=
ENST00000369620.6:c.1005C=	ENSP00000358633.2:p.Val335=
ENST00000393562.6:c.957C=	ENSP00000377192.2:p.Val319=
ENST00000393564.6:c.867C=	ENSP00000377194.2:p.Val289=
ENST00000439227.5:c.870C=	ENSP00000395599.1:p.Val290=
ENST00000440967.5:c.870C=	ENSP00000400648.1:p.Val290=
ENST00000621232.4:c.867C=	ENSP00000483686.1:p.Val289=
NM_000402.4:c.957C=	NP_000393.4:p.Val319=
NM_001042351.2:c.867C=	NP_001035810.1:p.Val289=
XM_005274657.2:c.960C=	XP_005274714.1:p.Val320=
XM_005274658.2:c.870C=	XP_005274715.1:p.Val290=
XM_011531132.1:c.958-324C=	XP_011529434.1:n.958-324C=
NM_001360016.2:c.867C= MANE Select	NP_001346945.1:p.Val289=
NM_001042351.3:c.867C=	NP_001035810.1:p.Val289=