Canonical Allele Identifier: CA803388

Gene: SLC2A1

Linked Data

• dbSNP Id: rs763921486
• ExAC: 1:43394854 T / C
• gnomAD v2: 1-43394854-T-C
• MyVariant Identifiers: chr1:g.43394854T>C (hg19) ; chr1:g.43394854_43394855delinsCG (hg19) ; chr1:g.42929183T>C (hg38) ; chr1:g.42929183_42929184delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929183T>C , CM000663.2:g.42929183T>C	GRCh38
NC_000001.10:g.43394854T>C , CM000663.1:g.43394854T>C	GRCh37
NC_000001.9:g.43167441T>C	NCBI36
NG_008232.1:g.34994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+27A>G MANE Select	ENSP00000416293.2:n.972+27A>G
ENST00000674545.1:n.317A>G
ENST00000674765.1:c.972+27A>G	ENSP00000501811.1:n.972+27A>G
ENST00000675112.1:n.1273+27A>G
ENST00000676254.1:n.1421+27A>G
ENST00000426263.7:c.972+27A>G	ENSP00000416293.2:n.972+27A>G
ENST00000439722.2:c.851+27A>G	ENSP00000395521.2:n.851+27A>G
ENST00000475162.3:c.415+1443A>G
ENST00000630287.2:c.*287+27A>G	ENSP00000486694.1:n.*287+27A>G
NM_006516.2:c.972+27A>G	NP_006507.2:n.972+27A>G
NM_006516.3:c.972+27A>G	NP_006507.2:n.972+27A>G
NM_006516.4:c.972+27A>G MANE Select	NP_006507.2:n.972+27A>G