Canonical Allele Identifier: CA2466723486

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532792G= , CM000685.2:g.154532792G=	GRCh38
NC_000023.10:g.153761007G= , CM000685.1:g.153761007G=	GRCh37
NC_000023.9:g.153414201G=	NCBI36
NG_009015.2:g.19781C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1062C=	ENSP00000377194.2:p.Phe354=
ENST00000439227.6:c.1065C=	ENSP00000395599.2:p.Phe355=
ENST00000696420.1:c.1062C=	ENSP00000512615.1:p.Phe354=
ENST00000696421.1:c.1062C=	ENSP00000512616.1:p.Phe354=
ENST00000696422.1:c.925C=
ENST00000696423.1:c.928C=
ENST00000696424.1:c.914C=	ENSP00000512619.1:n.914C=
ENST00000696425.1:c.875C=	ENSP00000512620.1:p.Ser292=
ENST00000696426.1:c.*522C=	ENSP00000512621.1:n.*522C=
ENST00000696427.1:c.*22C=	ENSP00000512622.1:n.*22C=
ENST00000696428.1:c.*904C=	ENSP00000512623.1:n.*904C=
ENST00000696429.1:c.1062C=	ENSP00000512624.1:p.Phe354=
ENST00000696430.1:c.1062C=	ENSP00000512625.1:p.Phe354=
ENST00000393562.10:c.1062C= MANE Select	ENSP00000377192.3:p.Phe354=
ENST00000369620.6:c.1200C=	ENSP00000358633.2:p.Phe400=
ENST00000393562.6:c.1152C=	ENSP00000377192.2:p.Phe384=
ENST00000393564.6:c.1062C=	ENSP00000377194.2:p.Phe354=
ENST00000490651.1:n.283C=
ENST00000621232.4:c.1062C=	ENSP00000483686.1:p.Phe354=
NM_000402.4:c.1152C=	NP_000393.4:p.Phe384=
NM_001042351.2:c.1062C=	NP_001035810.1:p.Phe354=
XM_005274657.2:c.1155C=	XP_005274714.1:p.Phe385=
XM_005274658.2:c.1065C=	XP_005274715.1:p.Phe355=
XM_011531132.1:c.968C=	XP_011529434.1:p.Ser323=
NM_001360016.2:c.1062C= MANE Select	NP_001346945.1:p.Phe354=
NM_001042351.3:c.1062C=	NP_001035810.1:p.Phe354=