Canonical Allele Identifier: CA2466723564

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532967G= , CM000685.2:g.154532967G=	GRCh38
NC_000023.10:g.153761182G= , CM000685.1:g.153761182G=	GRCh37
NC_000023.9:g.153414376G=	NCBI36
NG_009015.2:g.19606C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1026C=	ENSP00000377194.2:p.Leu342=
ENST00000439227.6:c.1029C=	ENSP00000395599.2:p.Leu343=
ENST00000696420.1:c.1026C=	ENSP00000512615.1:p.Leu342=
ENST00000696421.1:c.1026C=	ENSP00000512616.1:p.Leu342=
ENST00000696422.1:c.889C=
ENST00000696423.1:c.892C=
ENST00000696424.1:c.878C=	ENSP00000512619.1:n.878C=
ENST00000696425.1:c.865-165C=	ENSP00000512620.1:n.865-165C=
ENST00000696426.1:c.*486C=	ENSP00000512621.1:n.*486C=
ENST00000696427.1:c.1033C=	ENSP00000512622.1:p.Leu345=
ENST00000696428.1:c.*868C=	ENSP00000512623.1:n.*868C=
ENST00000696429.1:c.1026C=	ENSP00000512624.1:p.Leu342=
ENST00000696430.1:c.1026C=	ENSP00000512625.1:p.Leu342=
ENST00000393562.10:c.1026C= MANE Select	ENSP00000377192.3:p.Leu342=
ENST00000369620.6:c.1164C=	ENSP00000358633.2:p.Leu388=
ENST00000393562.6:c.1116C=	ENSP00000377192.2:p.Leu372=
ENST00000393564.6:c.1026C=	ENSP00000377194.2:p.Leu342=
ENST00000490651.1:n.108C=
ENST00000621232.4:c.1026C=	ENSP00000483686.1:p.Leu342=
NM_000402.4:c.1116C=	NP_000393.4:p.Leu372=
NM_001042351.2:c.1026C=	NP_001035810.1:p.Leu342=
XM_005274657.2:c.1119C=	XP_005274714.1:p.Leu373=
XM_005274658.2:c.1029C=	XP_005274715.1:p.Leu343=
XM_011531132.1:c.958-165C=	XP_011529434.1:n.958-165C=
NM_001360016.2:c.1026C= MANE Select	NP_001346945.1:p.Leu342=
NM_001042351.3:c.1026C=	NP_001035810.1:p.Leu342=