Canonical Allele Identifier: CA2466723476

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532768C= , CM000685.2:g.154532768C=	GRCh38
NC_000023.10:g.153760983C= , CM000685.1:g.153760983C=	GRCh37
NC_000023.9:g.153414177C=	NCBI36
NG_009015.2:g.19805G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1086G=	ENSP00000377194.2:p.Leu362=
ENST00000439227.6:c.1089G=	ENSP00000395599.2:p.Leu363=
ENST00000696420.1:c.1086G=	ENSP00000512615.1:p.Leu362=
ENST00000696421.1:c.1086G=	ENSP00000512616.1:p.Leu362=
ENST00000696422.1:c.949G=
ENST00000696423.1:c.952G=
ENST00000696424.1:c.938G=	ENSP00000512619.1:n.938G=
ENST00000696425.1:c.899G=	ENSP00000512620.1:p.Ter300=
ENST00000696426.1:c.*546G=	ENSP00000512621.1:n.*546G=
ENST00000696427.1:c.*46G=	ENSP00000512622.1:n.*46G=
ENST00000696428.1:c.*928G=	ENSP00000512623.1:n.*928G=
ENST00000696429.1:c.1086G=	ENSP00000512624.1:p.Leu362=
ENST00000696430.1:c.1086G=	ENSP00000512625.1:p.Leu362=
ENST00000393562.10:c.1086G= MANE Select	ENSP00000377192.3:p.Leu362=
ENST00000369620.6:c.1224G=	ENSP00000358633.2:p.Leu408=
ENST00000393562.6:c.1176G=	ENSP00000377192.2:p.Leu392=
ENST00000393564.6:c.1086G=	ENSP00000377194.2:p.Leu362=
ENST00000490651.1:n.307G=
ENST00000621232.4:c.1086G=	ENSP00000483686.1:p.Leu362=
NM_000402.4:c.1176G=	NP_000393.4:p.Leu392=
NM_001042351.2:c.1086G=	NP_001035810.1:p.Leu362=
XM_005274657.2:c.1179G=	XP_005274714.1:p.Leu393=
XM_005274658.2:c.1089G=	XP_005274715.1:p.Leu363=
XM_011531132.1:c.992G=	XP_011529434.1:p.Ter331=
NM_001360016.2:c.1086G= MANE Select	NP_001346945.1:p.Leu362=
NM_001042351.3:c.1086G=	NP_001035810.1:p.Leu362=