Canonical Allele Identifier: CA2466723619

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533108G= , CM000685.2:g.154533108G=	GRCh38
NC_000023.10:g.153761323G= , CM000685.1:g.153761323G=	GRCh37
NC_000023.9:g.153414517G=	NCBI36
NG_009015.2:g.19465C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.885C=	ENSP00000377194.2:p.Ile295=
ENST00000439227.6:c.888C=	ENSP00000395599.2:p.Ile296=
ENST00000696420.1:c.885C=	ENSP00000512615.1:p.Ile295=
ENST00000696421.1:c.885C=	ENSP00000512616.1:p.Ile295=
ENST00000696422.1:c.748C=
ENST00000696423.1:c.751C=
ENST00000696424.1:c.737C=	ENSP00000512619.1:n.737C=
ENST00000696425.1:c.865-306C=	ENSP00000512620.1:n.865-306C=
ENST00000696426.1:c.*345C=	ENSP00000512621.1:n.*345C=
ENST00000696427.1:c.892C=	ENSP00000512622.1:p.Leu298=
ENST00000696428.1:c.*727C=	ENSP00000512623.1:n.*727C=
ENST00000696429.1:c.885C=	ENSP00000512624.1:p.Ile295=
ENST00000696430.1:c.885C=	ENSP00000512625.1:p.Ile295=
ENST00000393562.10:c.885C= MANE Select	ENSP00000377192.3:p.Ile295=
ENST00000369620.6:c.1023C=	ENSP00000358633.2:p.Ile341=
ENST00000393562.6:c.975C=	ENSP00000377192.2:p.Ile325=
ENST00000393564.6:c.885C=	ENSP00000377194.2:p.Ile295=
ENST00000439227.5:c.888C=	ENSP00000395599.1:p.Ile296=
ENST00000440967.5:c.888C=	ENSP00000400648.1:p.Ile296=
ENST00000621232.4:c.885C=	ENSP00000483686.1:p.Ile295=
NM_000402.4:c.975C=	NP_000393.4:p.Ile325=
NM_001042351.2:c.885C=	NP_001035810.1:p.Ile295=
XM_005274657.2:c.978C=	XP_005274714.1:p.Ile326=
XM_005274658.2:c.888C=	XP_005274715.1:p.Ile296=
XM_011531132.1:c.958-306C=	XP_011529434.1:n.958-306C=
NM_001360016.2:c.885C= MANE Select	NP_001346945.1:p.Ile295=
NM_001042351.3:c.885C=	NP_001035810.1:p.Ile295=