Canonical Allele Identifier: CA2466723581

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532997G= , CM000685.2:g.154532997G=	GRCh38
NC_000023.10:g.153761212G= , CM000685.1:g.153761212G=	GRCh37
NC_000023.9:g.153414406G=	NCBI36
NG_009015.2:g.19576C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.996C=	ENSP00000377194.2:p.Ser332=
ENST00000439227.6:c.999C=	ENSP00000395599.2:p.Ser333=
ENST00000696420.1:c.996C=	ENSP00000512615.1:p.Ser332=
ENST00000696421.1:c.996C=	ENSP00000512616.1:p.Ser332=
ENST00000696422.1:c.859C=
ENST00000696423.1:c.862C=
ENST00000696424.1:c.848C=	ENSP00000512619.1:n.848C=
ENST00000696425.1:c.865-195C=	ENSP00000512620.1:n.865-195C=
ENST00000696426.1:c.*456C=	ENSP00000512621.1:n.*456C=
ENST00000696427.1:c.1003C=	ENSP00000512622.1:p.His335=
ENST00000696428.1:c.*838C=	ENSP00000512623.1:n.*838C=
ENST00000696429.1:c.996C=	ENSP00000512624.1:p.Ser332=
ENST00000696430.1:c.996C=	ENSP00000512625.1:p.Ser332=
ENST00000393562.10:c.996C= MANE Select	ENSP00000377192.3:p.Ser332=
ENST00000369620.6:c.1134C=	ENSP00000358633.2:p.Ser378=
ENST00000393562.6:c.1086C=	ENSP00000377192.2:p.Ser362=
ENST00000393564.6:c.996C=	ENSP00000377194.2:p.Ser332=
ENST00000439227.5:c.999C=	ENSP00000395599.1:p.Ser333=
ENST00000490651.1:n.78C=
ENST00000621232.4:c.996C=	ENSP00000483686.1:p.Ser332=
NM_000402.4:c.1086C=	NP_000393.4:p.Ser362=
NM_001042351.2:c.996C=	NP_001035810.1:p.Ser332=
XM_005274657.2:c.1089C=	XP_005274714.1:p.Ser363=
XM_005274658.2:c.999C=	XP_005274715.1:p.Ser333=
XM_011531132.1:c.958-195C=	XP_011529434.1:n.958-195C=
NM_001360016.2:c.996C= MANE Select	NP_001346945.1:p.Ser332=
NM_001042351.3:c.996C=	NP_001035810.1:p.Ser332=