Canonical Allele Identifier: CA2466723352

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532429T= , CM000685.2:g.154532429T=	GRCh38
NC_000023.10:g.153760644T= , CM000685.1:g.153760644T=	GRCh37
NC_000023.9:g.153413838T=	NCBI36
NG_009015.2:g.20144A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1321A=	ENSP00000377194.2:p.Ile441=
ENST00000439227.6:c.1324A=	ENSP00000395599.2:p.Ile442=
ENST00000696420.1:c.1321A=	ENSP00000512615.1:p.Ile441=
ENST00000696421.1:c.1321A=	ENSP00000512616.1:p.Ile441=
ENST00000696422.1:c.1184A=
ENST00000696423.1:c.1187A=
ENST00000696424.1:c.1173A=	ENSP00000512619.1:n.1173A=
ENST00000696425.1:c.*234A=	ENSP00000512620.1:n.*234A=
ENST00000696426.1:c.*781A=	ENSP00000512621.1:n.*781A=
ENST00000696427.1:c.*281A=	ENSP00000512622.1:n.*281A=
ENST00000696428.1:c.*1163A=	ENSP00000512623.1:n.*1163A=
ENST00000696429.1:c.1321A=	ENSP00000512624.1:p.Ile441=
ENST00000696430.1:c.1321A=	ENSP00000512625.1:p.Ile441=
ENST00000393562.10:c.1321A= MANE Select	ENSP00000377192.3:p.Ile441=
ENST00000369620.6:c.1459A=	ENSP00000358633.2:p.Ile487=
ENST00000393562.6:c.1411A=	ENSP00000377192.2:p.Ile471=
ENST00000393564.6:c.1321A=	ENSP00000377194.2:p.Ile441=
ENST00000490651.1:n.542A=
ENST00000621232.4:c.1321A=	ENSP00000483686.1:p.Ile441=
NM_000402.4:c.1411A=	NP_000393.4:p.Ile471=
NM_001042351.2:c.1321A=	NP_001035810.1:p.Ile441=
XM_005274657.2:c.1414A=	XP_005274714.1:p.Ile472=
XM_005274658.2:c.1324A=	XP_005274715.1:p.Ile442=
NM_001360016.2:c.1321A= MANE Select	NP_001346945.1:p.Ile441=
NM_001042351.3:c.1321A=	NP_001035810.1:p.Ile441=