Canonical Allele Identifier: CA9892022

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 241606
• ClinVar RCV Id: RCV000338554 ; RCV000585432 ; RCV001002470 ; RCV001798741
• dbSNP Id: rs34295241
• ExAC: 20:45354349 G / A
• gnomAD v2: 20-45354349-G-A
• gnomAD v3: 20-46725710-G-A
• gnomAD v4: 20-46725710-G-A
• MyVariant Identifiers: chr20:g.45354349G>A (hg19) ; chr20:g.46725710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725710G>A , CM000682.2:g.46725710G>A	GRCh38
NC_000020.10:g.45354349G>A , CM000682.1:g.45354349G>A	GRCh37
NC_000020.9:g.44787756G>A	NCBI36
NG_016284.1:g.21071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.674G>A MANE Select	ENSP00000352216.2:p.Arg225His
ENST00000359271.3:c.674G>A	ENSP00000352216.2:p.Arg225His
NM_030777.3:c.674G>A	NP_110404.1:p.Arg225His
XM_011529060.1:c.737G>A	XP_011527362.1:p.Arg246His
XM_011529061.1:c.683G>A	XP_011527363.1:p.Arg228His
XM_011529062.1:c.737G>A	XP_011527364.1:p.Arg246His
XM_011529063.1:c.737G>A	XP_011527365.1:p.Arg246His
XM_011529064.1:c.737G>A	XP_011527366.1:p.Arg246His
XM_011529065.1:c.737G>A	XP_011527367.1:p.Arg246His
XR_936641.1:n.873G>A
XM_011529060.2:c.737G>A	XP_011527362.1:p.Arg246His
XM_011529061.2:c.683G>A	XP_011527363.1:p.Arg228His
XM_011529062.2:c.737G>A	XP_011527364.1:p.Arg246His
XM_011529063.2:c.737G>A	XP_011527365.1:p.Arg246His
XM_011529064.2:c.737G>A	XP_011527366.1:p.Arg246His
XM_011529065.2:c.737G>A	XP_011527367.1:p.Arg246His
XM_017028087.2:c.674G>A	XP_016883576.1:p.Arg225His
XR_936641.2:n.860G>A
NM_030777.4:c.674G>A MANE Select	NP_110404.1:p.Arg225His