Canonical Allele Identifier: CA1149116662

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929215C= , CM000663.2:g.42929215C=	GRCh38
NC_000001.10:g.43394886C= , CM000663.1:g.43394886C=	GRCh37
NC_000001.9:g.43167473C=	NCBI36
NG_008232.1:g.34962G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.967G= MANE Select	ENSP00000416293.2:p.Val323=
ENST00000674545.1:n.285G=
ENST00000674765.1:c.967G=	ENSP00000501811.1:p.Val323=
ENST00000675112.1:n.1268G=
ENST00000676254.1:n.1416G=
ENST00000426263.7:c.967G=	ENSP00000416293.2:p.Val323=
ENST00000439722.2:c.846G=	ENSP00000395521.2:n.846G=
ENST00000475162.3:c.415+1411G=
ENST00000630287.2:c.*282G=	ENSP00000486694.1:n.*282G=
NM_006516.2:c.967G=	NP_006507.2:p.Val323=
NM_006516.3:c.967G=	NP_006507.2:p.Val323=
NM_006516.4:c.967G= MANE Select	NP_006507.2:p.Val323=