Canonical Allele Identifier: CA16042396
Gene: SLC2A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372507
ClinVar RCV Id: RCV000414747
dbSNP Id: rs1057517822

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930724C>T , CM000663.2:g.42930724C>T GRCh38
NC_000001.10:g.43396395C>T , CM000663.1:g.43396395C>T GRCh37
NC_000001.9:g.43168982C>T NCBI36
NG_008232.1:g.33453G>A

Transcript Alleles

HGVS Amino-acid change
NM_006516.2:c.418G>A VV NP_006507.2:p.Val140Met
NM_006516.3:c.418G>A VV
ENST00000372500.4:c.322G>A ENSP00000361578.4:p.Val108Met
ENST00000426263.7:c.418G>A ENSP00000416293.2:p.Val140Met
ENST00000439722.2:n.297G>A ENSP00000395521.2:p.=
ENST00000475162.3:n.317G>A
ENST00000625233.2:n.626G>A
ENST00000630287.2:c.418G>A ENSP00000486694.1:p.Val140Met