Canonical Allele Identifier: CA339958920

Gene: SLC2A1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930029C>G , CM000663.2:g.42930029C>G	GRCh38
NC_000001.10:g.43395700C>G , CM000663.1:g.43395700C>G	GRCh37
NC_000001.9:g.43168287C>G	NCBI36
NG_008232.1:g.34148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.523G>C MANE Select	ENSP00000416293.2:p.Gly175Arg
ENST00000674765.1:c.523G>C	ENSP00000501811.1:p.Gly175Arg
ENST00000675112.1:n.546G>C
ENST00000676254.1:n.972G>C
ENST00000426263.7:c.523G>C	ENSP00000416293.2:p.Gly175Arg
ENST00000439722.2:c.402G>C	ENSP00000395521.2:n.402G>C
ENST00000475162.3:c.415+597G>C
ENST00000630287.2:c.517-249G>C	ENSP00000486694.1:n.517-249G>C
NM_006516.2:c.523G>C	NP_006507.2:p.Gly175Arg
NM_006516.3:c.523G>C	NP_006507.2:p.Gly175Arg
NM_006516.4:c.523G>C MANE Select	NP_006507.2:p.Gly175Arg