Canonical Allele Identifier: CA2595117377

Gene: SLC2A13

Linked Data

• dbSNP Id: rs2136095436
• gnomAD v3: 12-39947449-T-C
• gnomAD v4: 12-39947449-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39947449T>C , CM000674.2:g.39947449T>C	GRCh38
NC_000012.11:g.40341251T>C , CM000674.1:g.40341251T>C	GRCh37
NC_000012.10:g.38627518T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280871.9:c.1034+3808A>G MANE Select	ENSP00000280871.4:n.1034+3808A>G
ENST00000280871.8:c.1034+3808A>G	ENSP00000280871.4:n.1034+3808A>G
NM_052885.3:c.1034+3808A>G	NP_443117.3:n.1034+3808A>G
XM_011537847.1:c.1034+3808A>G	XP_011536149.1:n.1034+3808A>G
XM_011537848.1:c.1034+3808A>G	XP_011536150.1:n.1034+3808A>G
XM_011537849.1:c.1034+3808A>G	XP_011536151.1:n.1034+3808A>G
XM_011537850.1:c.1034+3808A>G	XP_011536152.1:n.1034+3808A>G
XM_011537847.2:c.1034+3808A>G	XP_011536149.1:n.1034+3808A>G
XM_011537849.2:c.1034+3808A>G	XP_011536151.1:n.1034+3808A>G
XM_011537850.3:c.1034+3808A>G	XP_011536152.1:n.1034+3808A>G
XM_017018764.1:c.467+3808A>G	XP_016874253.1:n.467+3808A>G
XM_017018765.1:c.467+3808A>G	XP_016874254.1:n.467+3808A>G
XM_017018766.1:c.314+3808A>G	XP_016874255.1:n.314+3808A>G
XR_001748567.2:n.1311+3808A>G
XR_001748568.1:n.1311+3808A>G
NM_052885.4:c.1034+3808A>G MANE Select	NP_443117.3:n.1034+3808A>G