Canonical Allele Identifier: CA688752382

Gene: SLC2A13

Linked Data

• dbSNP Id: rs1234996604
• gnomAD v3: 12-40031156-G-A
• gnomAD v4: 12-40031156-G-A
• MyVariant Identifiers: chr12:g.40424958G>A (hg19) ; chr12:g.40031156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40031156G>A , CM000674.2:g.40031156G>A	GRCh38
NC_000012.11:g.40424958G>A , CM000674.1:g.40424958G>A	GRCh37
NC_000012.10:g.38711225G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000280871.9:c.717-2647C>T MANE Select	ENSP00000280871.4:n.717-2647C>T
ENST00000280871.8:c.717-2647C>T	ENSP00000280871.4:n.717-2647C>T
ENST00000380858.1:c.717-2647C>T	ENSP00000370239.1:n.717-2647C>T
NM_052885.3:c.717-2647C>T	NP_443117.3:n.717-2647C>T
XM_011537847.1:c.717-2647C>T	XP_011536149.1:n.717-2647C>T
XM_011537848.1:c.717-2647C>T	XP_011536150.1:n.717-2647C>T
XM_011537849.1:c.717-2647C>T	XP_011536151.1:n.717-2647C>T
XM_011537850.1:c.717-2647C>T	XP_011536152.1:n.717-2647C>T
XM_011537847.2:c.717-2647C>T	XP_011536149.1:n.717-2647C>T
XM_011537849.2:c.717-2647C>T	XP_011536151.1:n.717-2647C>T
XM_011537850.3:c.717-2647C>T	XP_011536152.1:n.717-2647C>T
XM_017018764.1:c.150-2647C>T	XP_016874253.1:n.150-2647C>T
XM_017018765.1:c.150-2647C>T	XP_016874254.1:n.150-2647C>T
XR_001748567.2:n.994-2647C>T
XR_001748568.1:n.994-2647C>T
NM_052885.4:c.717-2647C>T MANE Select	NP_443117.3:n.717-2647C>T