Canonical Allele Identifier: CA15736544
Gene: SLC2A13 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1994090

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40034759G>T , CM000674.2:g.40034759G>T GRCh38
NC_000012.11:g.40428561G>T , CM000674.1:g.40428561G>T GRCh37
NC_000012.10:g.38714828G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_052885.3:c.717-6250C>A VV NP_443117.3:p.=
XM_011537847.1:c.717-6250C>A XP_011536149.1:p.=
XM_011537848.1:c.717-6250C>A XP_011536150.1:p.=
XM_011537849.1:c.717-6250C>A XP_011536151.1:p.=
XM_011537850.1:c.717-6250C>A XP_011536152.1:p.=
XM_011537847.2:c.717-6250C>A
XM_011537849.2:c.717-6250C>A
XM_011537850.3:c.717-6250C>A
XM_017018764.1:c.150-6250C>A XP_016874253.1:p.=
XM_017018765.1:c.150-6250C>A XP_016874254.1:p.=
XR_001748567.2:n.994-6250C>A
XR_001748568.1:n.994-6250C>A
NM_052885.4:c.717-6250C>A VV MANE Preferred
ENST00000280871.8:c.717-6250C>A ENSP00000280871.4:p.=
ENST00000380858.1:c.717-6250C>A ENSP00000370239.1:p.=