Canonical Allele Identifier: CA2466723271

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532240G= , CM000685.2:g.154532240G=	GRCh38
NC_000023.10:g.153760455G= , CM000685.1:g.153760455G=	GRCh37
NC_000023.9:g.153413649G=	NCBI36
NG_009015.2:g.20333C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1405C=	ENSP00000377194.2:p.Leu469=
ENST00000439227.6:c.1408C=	ENSP00000395599.2:p.Leu470=
ENST00000696420.1:c.1405C=	ENSP00000512615.1:p.Leu469=
ENST00000696421.1:c.1405C=	ENSP00000512616.1:p.Leu469=
ENST00000696422.1:c.1268C=
ENST00000696423.1:c.1271C=
ENST00000696424.1:c.1257C=	ENSP00000512619.1:n.1257C=
ENST00000696425.1:c.*318C=	ENSP00000512620.1:n.*318C=
ENST00000696426.1:c.*865C=	ENSP00000512621.1:n.*865C=
ENST00000696427.1:c.*365C=	ENSP00000512622.1:n.*365C=
ENST00000696428.1:c.*1247C=	ENSP00000512623.1:n.*1247C=
ENST00000696429.1:c.1405C=	ENSP00000512624.1:p.Leu469=
ENST00000696430.1:c.1405C=	ENSP00000512625.1:p.Leu469=
ENST00000393562.10:c.1405C= MANE Select	ENSP00000377192.3:p.Leu469=
ENST00000369620.6:c.1543C=	ENSP00000358633.2:p.Leu515=
ENST00000393562.6:c.1495C=	ENSP00000377192.2:p.Leu499=
ENST00000393564.6:c.1405C=	ENSP00000377194.2:p.Leu469=
ENST00000490651.1:n.626C=
ENST00000621232.4:c.1405C=	ENSP00000483686.1:p.Leu469=
NM_000402.4:c.1495C=	NP_000393.4:p.Leu499=
NM_001042351.2:c.1405C=	NP_001035810.1:p.Leu469=
XM_005274657.2:c.1498C=	XP_005274714.1:p.Leu500=
XM_005274658.2:c.1408C=	XP_005274715.1:p.Leu470=
NM_001360016.2:c.1405C= MANE Select	NP_001346945.1:p.Leu469=
NM_001042351.3:c.1405C=	NP_001035810.1:p.Leu469=