Canonical Allele Identifier: CA322287

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213748
• ClinVar RCV Id: RCV000197827 ; RCV000685755 ; RCV002315623
• dbSNP Id: rs145994112
• ExAC: 20:45354523 C / A
• gnomAD v2: 20-45354523-C-A
• gnomAD v3: 20-46725884-C-A
• gnomAD v4: 20-46725884-C-A
• MyVariant Identifiers: chr20:g.45354523C>A (hg19) ; chr20:g.46725884C>A (hg38)
• PubMed: PMID:23142374

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725884C>A , CM000682.2:g.46725884C>A	GRCh38
NC_000020.10:g.45354523C>A , CM000682.1:g.45354523C>A	GRCh37
NC_000020.9:g.44787930C>A	NCBI36
NG_016284.1:g.21245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.848C>A MANE Select	ENSP00000352216.2:p.Ala283Asp
ENST00000359271.3:c.848C>A	ENSP00000352216.2:p.Ala283Asp
NM_030777.3:c.848C>A	NP_110404.1:p.Ala283Asp
XM_011529060.1:c.911C>A	XP_011527362.1:p.Ala304Asp
XM_011529061.1:c.857C>A	XP_011527363.1:p.Ala286Asp
XM_011529062.1:c.911C>A	XP_011527364.1:p.Ala304Asp
XM_011529063.1:c.911C>A	XP_011527365.1:p.Ala304Asp
XM_011529064.1:c.911C>A	XP_011527366.1:p.Ala304Asp
XM_011529065.1:c.911C>A	XP_011527367.1:p.Ala304Asp
XR_936641.1:n.1047C>A
XM_011529060.2:c.911C>A	XP_011527362.1:p.Ala304Asp
XM_011529061.2:c.857C>A	XP_011527363.1:p.Ala286Asp
XM_011529062.2:c.911C>A	XP_011527364.1:p.Ala304Asp
XM_011529063.2:c.911C>A	XP_011527365.1:p.Ala304Asp
XM_011529064.2:c.911C>A	XP_011527366.1:p.Ala304Asp
XM_011529065.2:c.911C>A	XP_011527367.1:p.Ala304Asp
XM_017028087.2:c.848C>A	XP_016883576.1:p.Ala283Asp
XR_936641.2:n.1034C>A
NM_030777.4:c.848C>A MANE Select	NP_110404.1:p.Ala283Asp