Canonical Allele Identifier: CA2466723348

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532420C= , CM000685.2:g.154532420C=	GRCh38
NC_000023.10:g.153760635C= , CM000685.1:g.153760635C=	GRCh37
NC_000023.9:g.153413829C=	NCBI36
NG_009015.2:g.20153G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1330G=	ENSP00000377194.2:p.Val444=
ENST00000439227.6:c.1333G=	ENSP00000395599.2:p.Val445=
ENST00000696420.1:c.1330G=	ENSP00000512615.1:p.Val444=
ENST00000696421.1:c.1330G=	ENSP00000512616.1:p.Val444=
ENST00000696422.1:c.1193G=
ENST00000696423.1:c.1196G=
ENST00000696424.1:c.1182G=	ENSP00000512619.1:n.1182G=
ENST00000696425.1:c.*243G=	ENSP00000512620.1:n.*243G=
ENST00000696426.1:c.*790G=	ENSP00000512621.1:n.*790G=
ENST00000696427.1:c.*290G=	ENSP00000512622.1:n.*290G=
ENST00000696428.1:c.*1172G=	ENSP00000512623.1:n.*1172G=
ENST00000696429.1:c.1330G=	ENSP00000512624.1:p.Val444=
ENST00000696430.1:c.1330G=	ENSP00000512625.1:p.Val444=
ENST00000393562.10:c.1330G= MANE Select	ENSP00000377192.3:p.Val444=
ENST00000369620.6:c.1468G=	ENSP00000358633.2:p.Val490=
ENST00000393562.6:c.1420G=	ENSP00000377192.2:p.Val474=
ENST00000393564.6:c.1330G=	ENSP00000377194.2:p.Val444=
ENST00000490651.1:n.551G=
ENST00000621232.4:c.1330G=	ENSP00000483686.1:p.Val444=
NM_000402.4:c.1420G=	NP_000393.4:p.Val474=
NM_001042351.2:c.1330G=	NP_001035810.1:p.Val444=
XM_005274657.2:c.1423G=	XP_005274714.1:p.Val475=
XM_005274658.2:c.1333G=	XP_005274715.1:p.Val445=
NM_001360016.2:c.1330G= MANE Select	NP_001346945.1:p.Val444=
NM_001042351.3:c.1330G=	NP_001035810.1:p.Val444=