Canonical Allele Identifier: CA604630882

Gene: SLC2A13

Linked Data

• dbSNP Id: rs1277957394
• gnomAD v2: 12-40425072-C-T
• gnomAD v3: 12-40031270-C-T
• gnomAD v4: 12-40031270-C-T
• COSMIC: COSN7369514
• MyVariant Identifiers: chr12:g.40425072C>T (hg19) ; chr12:g.40031270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40031270C>T , CM000674.2:g.40031270C>T	GRCh38
NC_000012.11:g.40425072C>T , CM000674.1:g.40425072C>T	GRCh37
NC_000012.10:g.38711339C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280871.9:c.717-2761G>A MANE Select	ENSP00000280871.4:n.717-2761G>A
ENST00000280871.8:c.717-2761G>A	ENSP00000280871.4:n.717-2761G>A
ENST00000380858.1:c.717-2761G>A	ENSP00000370239.1:n.717-2761G>A
NM_052885.3:c.717-2761G>A	NP_443117.3:n.717-2761G>A
XM_011537847.1:c.717-2761G>A	XP_011536149.1:n.717-2761G>A
XM_011537848.1:c.717-2761G>A	XP_011536150.1:n.717-2761G>A
XM_011537849.1:c.717-2761G>A	XP_011536151.1:n.717-2761G>A
XM_011537850.1:c.717-2761G>A	XP_011536152.1:n.717-2761G>A
XM_011537847.2:c.717-2761G>A	XP_011536149.1:n.717-2761G>A
XM_011537849.2:c.717-2761G>A	XP_011536151.1:n.717-2761G>A
XM_011537850.3:c.717-2761G>A	XP_011536152.1:n.717-2761G>A
XM_017018764.1:c.150-2761G>A	XP_016874253.1:n.150-2761G>A
XM_017018765.1:c.150-2761G>A	XP_016874254.1:n.150-2761G>A
XR_001748567.2:n.994-2761G>A
XR_001748568.1:n.994-2761G>A
NM_052885.4:c.717-2761G>A MANE Select	NP_443117.3:n.717-2761G>A