Canonical Allele Identifier: CA2030819645

Gene: SLC2A13

Linked Data

• dbSNP Id: rs1946154527

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39947445G>A , CM000674.2:g.39947445G>A	GRCh38
NC_000012.11:g.40341247G>A , CM000674.1:g.40341247G>A	GRCh37
NC_000012.10:g.38627514G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280871.9:c.1034+3812C>T MANE Select	ENSP00000280871.4:n.1034+3812C>T
ENST00000280871.8:c.1034+3812C>T	ENSP00000280871.4:n.1034+3812C>T
NM_052885.3:c.1034+3812C>T	NP_443117.3:n.1034+3812C>T
XM_011537847.1:c.1034+3812C>T	XP_011536149.1:n.1034+3812C>T
XM_011537848.1:c.1034+3812C>T	XP_011536150.1:n.1034+3812C>T
XM_011537849.1:c.1034+3812C>T	XP_011536151.1:n.1034+3812C>T
XM_011537850.1:c.1034+3812C>T	XP_011536152.1:n.1034+3812C>T
XM_011537847.2:c.1034+3812C>T	XP_011536149.1:n.1034+3812C>T
XM_011537849.2:c.1034+3812C>T	XP_011536151.1:n.1034+3812C>T
XM_011537850.3:c.1034+3812C>T	XP_011536152.1:n.1034+3812C>T
XM_017018764.1:c.467+3812C>T	XP_016874253.1:n.467+3812C>T
XM_017018765.1:c.467+3812C>T	XP_016874254.1:n.467+3812C>T
XM_017018766.1:c.314+3812C>T	XP_016874255.1:n.314+3812C>T
XR_001748567.2:n.1311+3812C>T
XR_001748568.1:n.1311+3812C>T
NM_052885.4:c.1034+3812C>T MANE Select	NP_443117.3:n.1034+3812C>T