Canonical Allele Identifier: CA803392

Gene: SLC2A1

Linked Data

• dbSNP Id: rs200807472
• ExAC: 1:43394859 G / C
• gnomAD v2: 1-43394859-G-C
• gnomAD v3: 1-42929188-G-C
• gnomAD v4: 1-42929188-G-C
• MyVariant Identifiers: chr1:g.43394859G>C (hg19) ; chr1:g.42929188G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929188G>C , CM000663.2:g.42929188G>C	GRCh38
NC_000001.10:g.43394859G>C , CM000663.1:g.43394859G>C	GRCh37
NC_000001.9:g.43167446G>C	NCBI36
NG_008232.1:g.34989C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+22C>G MANE Select	ENSP00000416293.2:n.972+22C>G
ENST00000674545.1:n.312C>G
ENST00000674765.1:c.972+22C>G	ENSP00000501811.1:n.972+22C>G
ENST00000675112.1:n.1273+22C>G
ENST00000676254.1:n.1421+22C>G
ENST00000426263.7:c.972+22C>G	ENSP00000416293.2:n.972+22C>G
ENST00000439722.2:c.851+22C>G	ENSP00000395521.2:n.851+22C>G
ENST00000475162.3:c.415+1438C>G
ENST00000630287.2:c.*287+22C>G	ENSP00000486694.1:n.*287+22C>G
NM_006516.2:c.972+22C>G	NP_006507.2:n.972+22C>G
NM_006516.3:c.972+22C>G	NP_006507.2:n.972+22C>G
NM_006516.4:c.972+22C>G MANE Select	NP_006507.2:n.972+22C>G