Canonical Allele Identifier: CA2466723579

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532995G= , CM000685.2:g.154532995G=	GRCh38
NC_000023.10:g.153761210G= , CM000685.1:g.153761210G=	GRCh37
NC_000023.9:g.153414404G=	NCBI36
NG_009015.2:g.19578C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.998C=	ENSP00000377194.2:p.Thr333=
ENST00000439227.6:c.1001C=	ENSP00000395599.2:p.Thr334=
ENST00000696420.1:c.998C=	ENSP00000512615.1:p.Thr333=
ENST00000696421.1:c.998C=	ENSP00000512616.1:p.Thr333=
ENST00000696422.1:c.861C=
ENST00000696423.1:c.864C=
ENST00000696424.1:c.850C=	ENSP00000512619.1:n.850C=
ENST00000696425.1:c.865-193C=	ENSP00000512620.1:n.865-193C=
ENST00000696426.1:c.*458C=	ENSP00000512621.1:n.*458C=
ENST00000696427.1:c.1005C=	ENSP00000512622.1:p.His335=
ENST00000696428.1:c.*840C=	ENSP00000512623.1:n.*840C=
ENST00000696429.1:c.998C=	ENSP00000512624.1:p.Thr333=
ENST00000696430.1:c.998C=	ENSP00000512625.1:p.Thr333=
ENST00000393562.10:c.998C= MANE Select	ENSP00000377192.3:p.Thr333=
ENST00000369620.6:c.1136C=	ENSP00000358633.2:p.Thr379=
ENST00000393562.6:c.1088C=	ENSP00000377192.2:p.Thr363=
ENST00000393564.6:c.998C=	ENSP00000377194.2:p.Thr333=
ENST00000439227.5:c.1001C=	ENSP00000395599.1:p.Thr334=
ENST00000490651.1:n.80C=
ENST00000621232.4:c.998C=	ENSP00000483686.1:p.Thr333=
NM_000402.4:c.1088C=	NP_000393.4:p.Thr363=
NM_001042351.2:c.998C=	NP_001035810.1:p.Thr333=
XM_005274657.2:c.1091C=	XP_005274714.1:p.Thr364=
XM_005274658.2:c.1001C=	XP_005274715.1:p.Thr334=
XM_011531132.1:c.958-193C=	XP_011529434.1:n.958-193C=
NM_001360016.2:c.998C= MANE Select	NP_001346945.1:p.Thr333=
NM_001042351.3:c.998C=	NP_001035810.1:p.Thr333=