Canonical Allele Identifier: CA1148224322

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929714C= , CM000663.2:g.42929714C=	GRCh38
NC_000001.10:g.43395385C= , CM000663.1:g.43395385C=	GRCh37
NC_000001.9:g.43167972C=	NCBI36
NG_008232.1:g.34463G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.746G= MANE Select	ENSP00000416293.2:p.Arg249=
ENST00000669445.1:c.76G=
ENST00000674765.1:c.746G=	ENSP00000501811.1:p.Arg249=
ENST00000675112.1:n.769G=
ENST00000676254.1:n.1195G=
ENST00000426263.7:c.746G=	ENSP00000416293.2:p.Arg249=
ENST00000439722.2:c.625G=	ENSP00000395521.2:n.625G=
ENST00000475162.3:c.415+912G=
ENST00000630287.2:c.*61G=	ENSP00000486694.1:n.*61G=
NM_006516.2:c.746G=	NP_006507.2:p.Arg249=
NM_006516.3:c.746G=	NP_006507.2:p.Arg249=
NM_006516.4:c.746G= MANE Select	NP_006507.2:p.Arg249=