Canonical Allele Identifier: CA2795673924

Gene: SLC2A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39947100G>T , CM000674.2:g.39947100G>T	GRCh38
NC_000012.11:g.40340902G>T , CM000674.1:g.40340902G>T	GRCh37
NC_000012.10:g.38627169G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280871.9:c.1034+4157C>A MANE Select	ENSP00000280871.4:n.1034+4157C>A
ENST00000280871.8:c.1034+4157C>A	ENSP00000280871.4:n.1034+4157C>A
NM_052885.3:c.1034+4157C>A	NP_443117.3:n.1034+4157C>A
XM_011537847.1:c.1034+4157C>A	XP_011536149.1:n.1034+4157C>A
XM_011537848.1:c.1034+4157C>A	XP_011536150.1:n.1034+4157C>A
XM_011537849.1:c.1034+4157C>A	XP_011536151.1:n.1034+4157C>A
XM_011537850.1:c.1034+4157C>A	XP_011536152.1:n.1034+4157C>A
XM_011537847.2:c.1034+4157C>A	XP_011536149.1:n.1034+4157C>A
XM_011537849.2:c.1034+4157C>A	XP_011536151.1:n.1034+4157C>A
XM_011537850.3:c.1034+4157C>A	XP_011536152.1:n.1034+4157C>A
XM_017018764.1:c.467+4157C>A	XP_016874253.1:n.467+4157C>A
XM_017018765.1:c.467+4157C>A	XP_016874254.1:n.467+4157C>A
XM_017018766.1:c.314+4157C>A	XP_016874255.1:n.314+4157C>A
XR_001748567.2:n.1311+4157C>A
XR_001748568.1:n.1311+4157C>A
NM_052885.4:c.1034+4157C>A MANE Select	NP_443117.3:n.1034+4157C>A