Canonical Allele Identifier: CA2740130025

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532392A= , CM000685.2:g.154532392A=	GRCh38
NC_000023.10:g.153760607A= , CM000685.1:g.153760607A=	GRCh37
NC_000023.9:g.153413801A=	NCBI36
NG_009015.2:g.20181T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1358T=	ENSP00000377194.2:p.Val453=
ENST00000439227.6:c.1361T=	ENSP00000395599.2:p.Val454=
ENST00000696420.1:c.1358T=	ENSP00000512615.1:p.Val453=
ENST00000696421.1:c.1358T=	ENSP00000512616.1:p.Val453=
ENST00000696422.1:c.1221T=
ENST00000696423.1:c.1224T=
ENST00000696424.1:c.1210T=	ENSP00000512619.1:n.1210T=
ENST00000696425.1:c.*271T=	ENSP00000512620.1:n.*271T=
ENST00000696426.1:c.*818T=	ENSP00000512621.1:n.*818T=
ENST00000696427.1:c.*318T=	ENSP00000512622.1:n.*318T=
ENST00000696428.1:c.*1200T=	ENSP00000512623.1:n.*1200T=
ENST00000696429.1:c.1358T=	ENSP00000512624.1:p.Val453=
ENST00000696430.1:c.1358T=	ENSP00000512625.1:p.Val453=
ENST00000393562.10:c.1358T= MANE Select	ENSP00000377192.3:p.Val453=
ENST00000369620.6:c.1496T=	ENSP00000358633.2:p.Val499=
ENST00000393562.6:c.1448T=	ENSP00000377192.2:p.Val483=
ENST00000393564.6:c.1358T=	ENSP00000377194.2:p.Val453=
ENST00000490651.1:n.579T=
ENST00000621232.4:c.1358T=	ENSP00000483686.1:p.Val453=
NM_000402.4:c.1448T=	NP_000393.4:p.Val483=
NM_001042351.2:c.1358T=	NP_001035810.1:p.Val453=
XM_005274657.2:c.1451T=	XP_005274714.1:p.Val484=
XM_005274658.2:c.1361T=	XP_005274715.1:p.Val454=
NM_001360016.2:c.1358T= MANE Select	NP_001346945.1:p.Val453=
NM_001042351.3:c.1358T=	NP_001035810.1:p.Val453=