Canonical Allele Identifier: CA9892061

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 423950
• ClinVar RCV Id: RCV000480486 ; RCV001088256 ; RCV003302717
• dbSNP Id: rs777604168
• ExAC: 20:45354551 C / A
• gnomAD v2: 20-45354551-C-A
• gnomAD v3: 20-46725912-C-A
• gnomAD v4: 20-46725912-C-A
• MyVariant Identifiers: chr20:g.45354551C>A (hg19) ; chr20:g.46725912C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725912C>A , CM000682.2:g.46725912C>A	GRCh38
NC_000020.10:g.45354551C>A , CM000682.1:g.45354551C>A	GRCh37
NC_000020.9:g.44787958C>A	NCBI36
NG_016284.1:g.21273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.876C>A MANE Select	ENSP00000352216.2:p.Asp292Glu
ENST00000359271.3:c.876C>A	ENSP00000352216.2:p.Asp292Glu
NM_030777.3:c.876C>A	NP_110404.1:p.Asp292Glu
XM_011529060.1:c.939C>A	XP_011527362.1:p.Asp313Glu
XM_011529061.1:c.885C>A	XP_011527363.1:p.Asp295Glu
XM_011529062.1:c.939C>A	XP_011527364.1:p.Asp313Glu
XM_011529063.1:c.939C>A	XP_011527365.1:p.Asp313Glu
XM_011529064.1:c.939C>A	XP_011527366.1:p.Asp313Glu
XM_011529065.1:c.939C>A	XP_011527367.1:p.Asp313Glu
XR_936641.1:n.1075C>A
XM_011529060.2:c.939C>A	XP_011527362.1:p.Asp313Glu
XM_011529061.2:c.885C>A	XP_011527363.1:p.Asp295Glu
XM_011529062.2:c.939C>A	XP_011527364.1:p.Asp313Glu
XM_011529063.2:c.939C>A	XP_011527365.1:p.Asp313Glu
XM_011529064.2:c.939C>A	XP_011527366.1:p.Asp313Glu
XM_011529065.2:c.939C>A	XP_011527367.1:p.Asp313Glu
XM_017028087.2:c.876C>A	XP_016883576.1:p.Asp292Glu
XR_936641.2:n.1062C>A
NM_030777.4:c.876C>A MANE Select	NP_110404.1:p.Asp292Glu