Canonical Allele Identifier: CA1165412584

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1643474799

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930277A>C , CM000663.2:g.42930277A>C	GRCh38
NC_000001.10:g.43395948A>C , CM000663.1:g.43395948A>C	GRCh37
NC_000001.9:g.43168535A>C	NCBI36
NG_008232.1:g.33900T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-242T>G MANE Select	ENSP00000416293.2:n.517-242T>G
ENST00000674765.1:c.517-242T>G	ENSP00000501811.1:n.517-242T>G
ENST00000675112.1:n.540-242T>G
ENST00000676254.1:n.966-242T>G
ENST00000426263.7:c.517-242T>G	ENSP00000416293.2:n.517-242T>G
ENST00000439722.2:c.396-242T>G	ENSP00000395521.2:n.396-242T>G
ENST00000475162.3:c.415+349T>G
ENST00000630287.2:c.516+349T>G	ENSP00000486694.1:n.516+349T>G
NM_006516.2:c.517-242T>G	NP_006507.2:n.517-242T>G
NM_006516.3:c.517-242T>G	NP_006507.2:n.517-242T>G
NM_006516.4:c.517-242T>G MANE Select	NP_006507.2:n.517-242T>G