Canonical Allele Identifier: CA2740130037

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532699G= , CM000685.2:g.154532699G=	GRCh38
NC_000023.10:g.153760914G= , CM000685.1:g.153760914G=	GRCh37
NC_000023.9:g.153414108G=	NCBI36
NG_009015.2:g.19874C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1155C=	ENSP00000377194.2:p.Cys385=
ENST00000439227.6:c.1158C=	ENSP00000395599.2:p.Cys386=
ENST00000696420.1:c.1155C=	ENSP00000512615.1:p.Cys385=
ENST00000696421.1:c.1155C=	ENSP00000512616.1:p.Cys385=
ENST00000696422.1:c.1018C=
ENST00000696423.1:c.1021C=
ENST00000696424.1:c.1007C=	ENSP00000512619.1:n.1007C=
ENST00000696425.1:c.*68C=	ENSP00000512620.1:n.*68C=
ENST00000696426.1:c.*615C=	ENSP00000512621.1:n.*615C=
ENST00000696427.1:c.*115C=	ENSP00000512622.1:n.*115C=
ENST00000696428.1:c.*997C=	ENSP00000512623.1:n.*997C=
ENST00000696429.1:c.1155C=	ENSP00000512624.1:p.Cys385=
ENST00000696430.1:c.1155C=	ENSP00000512625.1:p.Cys385=
ENST00000393562.10:c.1155C= MANE Select	ENSP00000377192.3:p.Cys385=
ENST00000369620.6:c.1293C=	ENSP00000358633.2:p.Cys431=
ENST00000393562.6:c.1245C=	ENSP00000377192.2:p.Cys415=
ENST00000393564.6:c.1155C=	ENSP00000377194.2:p.Cys385=
ENST00000490651.1:n.376C=
ENST00000621232.4:c.1155C=	ENSP00000483686.1:p.Cys385=
NM_000402.4:c.1245C=	NP_000393.4:p.Cys415=
NM_001042351.2:c.1155C=	NP_001035810.1:p.Cys385=
XM_005274657.2:c.1248C=	XP_005274714.1:p.Cys416=
XM_005274658.2:c.1158C=	XP_005274715.1:p.Cys386=
XM_011531132.1:c.*68C=	XP_011529434.1:n.*68C=
NM_001360016.2:c.1155C= MANE Select	NP_001346945.1:p.Cys385=
NM_001042351.3:c.1155C=	NP_001035810.1:p.Cys385=