Canonical Allele Identifier: CA2466723452

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532701A= , CM000685.2:g.154532701A=	GRCh38
NC_000023.10:g.153760916A= , CM000685.1:g.153760916A=	GRCh37
NC_000023.9:g.153414110A=	NCBI36
NG_009015.2:g.19872T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1153T=	ENSP00000377194.2:p.Cys385=
ENST00000439227.6:c.1156T=	ENSP00000395599.2:p.Cys386=
ENST00000696420.1:c.1153T=	ENSP00000512615.1:p.Cys385=
ENST00000696421.1:c.1153T=	ENSP00000512616.1:p.Cys385=
ENST00000696422.1:c.1016T=
ENST00000696423.1:c.1019T=
ENST00000696424.1:c.1005T=	ENSP00000512619.1:n.1005T=
ENST00000696425.1:c.*66T=	ENSP00000512620.1:n.*66T=
ENST00000696426.1:c.*613T=	ENSP00000512621.1:n.*613T=
ENST00000696427.1:c.*113T=	ENSP00000512622.1:n.*113T=
ENST00000696428.1:c.*995T=	ENSP00000512623.1:n.*995T=
ENST00000696429.1:c.1153T=	ENSP00000512624.1:p.Cys385=
ENST00000696430.1:c.1153T=	ENSP00000512625.1:p.Cys385=
ENST00000393562.10:c.1153T= MANE Select	ENSP00000377192.3:p.Cys385=
ENST00000369620.6:c.1291T=	ENSP00000358633.2:p.Cys431=
ENST00000393562.6:c.1243T=	ENSP00000377192.2:p.Cys415=
ENST00000393564.6:c.1153T=	ENSP00000377194.2:p.Cys385=
ENST00000490651.1:n.374T=
ENST00000621232.4:c.1153T=	ENSP00000483686.1:p.Cys385=
NM_000402.4:c.1243T=	NP_000393.4:p.Cys415=
NM_001042351.2:c.1153T=	NP_001035810.1:p.Cys385=
XM_005274657.2:c.1246T=	XP_005274714.1:p.Cys416=
XM_005274658.2:c.1156T=	XP_005274715.1:p.Cys386=
XM_011531132.1:c.*66T=	XP_011529434.1:n.*66T=
NM_001360016.2:c.1153T= MANE Select	NP_001346945.1:p.Cys385=
NM_001042351.3:c.1153T=	NP_001035810.1:p.Cys385=