Canonical Allele Identifier: CA735971181

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1478205542
• MyVariant Identifiers: chr1:g.43395786T>G (hg19) ; chr1:g.42930115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930115T>G , CM000663.2:g.42930115T>G	GRCh38
NC_000001.10:g.43395786T>G , CM000663.1:g.43395786T>G	GRCh37
NC_000001.9:g.43168373T>G	NCBI36
NG_008232.1:g.34062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-80A>C MANE Select	ENSP00000416293.2:n.517-80A>C
ENST00000674765.1:c.517-80A>C	ENSP00000501811.1:n.517-80A>C
ENST00000675112.1:n.540-80A>C
ENST00000676254.1:n.966-80A>C
ENST00000426263.7:c.517-80A>C	ENSP00000416293.2:n.517-80A>C
ENST00000439722.2:c.396-80A>C	ENSP00000395521.2:n.396-80A>C
ENST00000475162.3:c.415+511A>C
ENST00000630287.2:c.517-335A>C	ENSP00000486694.1:n.517-335A>C
NM_006516.2:c.517-80A>C	NP_006507.2:n.517-80A>C
NM_006516.3:c.517-80A>C	NP_006507.2:n.517-80A>C
NM_006516.4:c.517-80A>C MANE Select	NP_006507.2:n.517-80A>C