Canonical Allele Identifier: CA2466723471

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532758T= , CM000685.2:g.154532758T=	GRCh38
NC_000023.10:g.153760973T= , CM000685.1:g.153760973T=	GRCh37
NC_000023.9:g.153414167T=	NCBI36
NG_009015.2:g.19815A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1096A=	ENSP00000377194.2:p.Lys366=
ENST00000439227.6:c.1099A=	ENSP00000395599.2:p.Lys367=
ENST00000696420.1:c.1096A=	ENSP00000512615.1:p.Lys366=
ENST00000696421.1:c.1096A=	ENSP00000512616.1:p.Lys366=
ENST00000696422.1:c.959A=
ENST00000696423.1:c.962A=
ENST00000696424.1:c.948A=	ENSP00000512619.1:n.948A=
ENST00000696425.1:c.*9A=	ENSP00000512620.1:n.*9A=
ENST00000696426.1:c.*556A=	ENSP00000512621.1:n.*556A=
ENST00000696427.1:c.*56A=	ENSP00000512622.1:n.*56A=
ENST00000696428.1:c.*938A=	ENSP00000512623.1:n.*938A=
ENST00000696429.1:c.1096A=	ENSP00000512624.1:p.Lys366=
ENST00000696430.1:c.1096A=	ENSP00000512625.1:p.Lys366=
ENST00000393562.10:c.1096A= MANE Select	ENSP00000377192.3:p.Lys366=
ENST00000369620.6:c.1234A=	ENSP00000358633.2:p.Lys412=
ENST00000393562.6:c.1186A=	ENSP00000377192.2:p.Lys396=
ENST00000393564.6:c.1096A=	ENSP00000377194.2:p.Lys366=
ENST00000490651.1:n.317A=
ENST00000621232.4:c.1096A=	ENSP00000483686.1:p.Lys366=
NM_000402.4:c.1186A=	NP_000393.4:p.Lys396=
NM_001042351.2:c.1096A=	NP_001035810.1:p.Lys366=
XM_005274657.2:c.1189A=	XP_005274714.1:p.Lys397=
XM_005274658.2:c.1099A=	XP_005274715.1:p.Lys367=
XM_011531132.1:c.*9A=	XP_011529434.1:n.*9A=
NM_001360016.2:c.1096A= MANE Select	NP_001346945.1:p.Lys366=
NM_001042351.3:c.1096A=	NP_001035810.1:p.Lys366=