Canonical Allele Identifier: CA1165412179

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929225G= , CM000663.2:g.42929225G=	GRCh38
NC_000001.10:g.43394896G= , CM000663.1:g.43394896G=	GRCh37
NC_000001.9:g.43167483G=	NCBI36
NG_008232.1:g.34952C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.957C= MANE Select	ENSP00000416293.2:p.Ala319=
ENST00000674545.1:n.275C=
ENST00000674765.1:c.957C=	ENSP00000501811.1:p.Ala319=
ENST00000675112.1:n.1258C=
ENST00000676254.1:n.1406C=
ENST00000426263.7:c.957C=	ENSP00000416293.2:p.Ala319=
ENST00000439722.2:c.836C=	ENSP00000395521.2:n.836C=
ENST00000475162.3:c.415+1401C=
ENST00000630287.2:c.*272C=	ENSP00000486694.1:n.*272C=
NM_006516.2:c.957C=	NP_006507.2:p.Ala319=
NM_006516.3:c.957C=	NP_006507.2:p.Ala319=
NM_006516.4:c.957C= MANE Select	NP_006507.2:p.Ala319=