Canonical Allele Identifier: CA2697552357

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2758120
• ClinVar RCV Id: RCV003517047

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929319C>T , CM000663.2:g.42929319C>T	GRCh38
NC_000001.10:g.43394990C>T , CM000663.1:g.43394990C>T	GRCh37
NC_000001.9:g.43167577C>T	NCBI36
NG_008232.1:g.34858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.868-5G>A MANE Select	ENSP00000416293.2:n.868-5G>A
ENST00000674545.1:n.181G>A
ENST00000674765.1:c.868-5G>A	ENSP00000501811.1:n.868-5G>A
ENST00000675112.1:n.1164G>A
ENST00000676254.1:n.1317-5G>A
ENST00000426263.7:c.868-5G>A	ENSP00000416293.2:n.868-5G>A
ENST00000439722.2:c.747-5G>A	ENSP00000395521.2:n.747-5G>A
ENST00000475162.3:c.415+1307G>A
ENST00000630287.2:c.*183-5G>A	ENSP00000486694.1:n.*183-5G>A
NM_006516.2:c.868-5G>A	NP_006507.2:n.868-5G>A
NM_006516.3:c.868-5G>A	NP_006507.2:n.868-5G>A
NM_006516.4:c.868-5G>A MANE Select	NP_006507.2:n.868-5G>A