Canonical Allele Identifier: CA293554

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 139176
• ClinVar RCV Id: RCV000128126 ; RCV000227382 ; RCV000756646 ; RCV001171032
• dbSNP Id: rs117587497
• ExAC: 20:45358092 G / A
• gnomAD v2: 20-45358092-G-A
• gnomAD v3: 20-46729453-G-A
• gnomAD v4: 20-46729453-G-A
• COSMIC: COSM3740154
• MyVariant Identifiers: chr20:g.45358092G>A (hg19) ; chr20:g.46729453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46729453G>A , CM000682.2:g.46729453G>A	GRCh38
NC_000020.10:g.45358092G>A , CM000682.1:g.45358092G>A	GRCh37
NC_000020.9:g.44791499G>A	NCBI36
NG_016284.1:g.24814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1512G>A MANE Select	ENSP00000352216.2:p.Ser504=
ENST00000359271.3:c.1512G>A	ENSP00000352216.2:p.Ser504=
NM_030777.3:c.1512G>A	NP_110404.1:p.Ser504=
XM_011529060.1:c.1575G>A	XP_011527362.1:p.Ser525=
XM_011529061.1:c.1521G>A	XP_011527363.1:p.Ser507=
XM_011529062.1:c.1523+2467G>A	XP_011527364.1:n.1523+2467G>A
XM_011529065.1:c.1474+2467G>A	XP_011527367.1:n.1474+2467G>A
XR_936641.1:n.1760G>A
XM_011529060.2:c.1575G>A	XP_011527362.1:p.Ser525=
XM_011529061.2:c.1521G>A	XP_011527363.1:p.Ser507=
XM_011529062.2:c.1523+2467G>A	XP_011527364.1:n.1523+2467G>A
XM_011529065.2:c.1474+2467G>A	XP_011527367.1:n.1474+2467G>A
XM_017028087.2:c.1411+2467G>A	XP_016883576.1:n.1411+2467G>A
XR_936641.2:n.1747G>A
NM_030777.4:c.1512G>A MANE Select	NP_110404.1:p.Ser504=