Canonical Allele Identifier: CA2697552362

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2756922
• ClinVar RCV Id: RCV003517028

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930617C>A , CM000663.2:g.42930617C>A	GRCh38
NC_000001.10:g.43396288C>A , CM000663.1:g.43396288C>A	GRCh37
NC_000001.9:g.43168875C>A	NCBI36
NG_008232.1:g.33560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+9G>T MANE Select	ENSP00000416293.2:n.516+9G>T
ENST00000674765.1:c.516+9G>T	ENSP00000501811.1:n.516+9G>T
ENST00000675112.1:n.539+9G>T
ENST00000676254.1:n.965+9G>T
ENST00000426263.7:c.516+9G>T	ENSP00000416293.2:n.516+9G>T
ENST00000439722.2:c.395+9G>T	ENSP00000395521.2:n.395+9G>T
ENST00000475162.3:c.415+9G>T
ENST00000625233.2:n.733G>T
ENST00000630287.2:c.516+9G>T	ENSP00000486694.1:n.516+9G>T
NM_006516.2:c.516+9G>T	NP_006507.2:n.516+9G>T
NM_006516.3:c.516+9G>T	NP_006507.2:n.516+9G>T
NM_006516.4:c.516+9G>T MANE Select	NP_006507.2:n.516+9G>T