Canonical Allele Identifier: CA2466723841

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533630C= , CM000685.2:g.154533630C=	GRCh38
NC_000023.10:g.153761845C= , CM000685.1:g.153761845C=	GRCh37
NC_000023.9:g.153415039C=	NCBI36
NG_009015.2:g.18943G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.810G=	ENSP00000377194.2:p.Leu270=
ENST00000439227.6:c.813G=	ENSP00000395599.2:p.Leu271=
ENST00000696420.1:c.810G=	ENSP00000512615.1:p.Leu270=
ENST00000696421.1:c.810G=	ENSP00000512616.1:p.Leu270=
ENST00000696422.1:c.673G=
ENST00000696423.1:c.676G=
ENST00000696424.1:c.662G=	ENSP00000512619.1:p.Trp221=
ENST00000696425.1:c.810G=	ENSP00000512620.1:p.Leu270=
ENST00000696426.1:c.810G=	ENSP00000512621.1:p.Leu270=
ENST00000696427.1:c.810G=	ENSP00000512622.1:p.Leu270=
ENST00000696428.1:c.*652G=	ENSP00000512623.1:n.*652G=
ENST00000696429.1:c.810G=	ENSP00000512624.1:p.Leu270=
ENST00000696430.1:c.810G=	ENSP00000512625.1:p.Leu270=
ENST00000393562.10:c.810G= MANE Select	ENSP00000377192.3:p.Leu270=
ENST00000369620.6:c.948G=	ENSP00000358633.2:p.Leu316=
ENST00000393562.6:c.900G=	ENSP00000377192.2:p.Leu300=
ENST00000393564.6:c.810G=	ENSP00000377194.2:p.Leu270=
ENST00000439227.5:c.813G=	ENSP00000395599.1:p.Leu271=
ENST00000440967.5:c.813G=	ENSP00000400648.1:p.Leu271=
ENST00000489497.1:n.199G=
ENST00000621232.4:c.810G=	ENSP00000483686.1:p.Leu270=
NM_000402.4:c.900G=	NP_000393.4:p.Leu300=
NM_001042351.2:c.810G=	NP_001035810.1:p.Leu270=
XM_005274657.2:c.903G=	XP_005274714.1:p.Leu301=
XM_005274658.2:c.813G=	XP_005274715.1:p.Leu271=
XM_011531132.1:c.903G=	XP_011529434.1:p.Leu301=
NM_001360016.2:c.810G= MANE Select	NP_001346945.1:p.Leu270=
NM_001042351.3:c.810G=	NP_001035810.1:p.Leu270=