Canonical Allele Identifier: CA409267292

Gene: SLC2A10

Linked Data

• dbSNP Id: rs1160817941
• gnomAD v2: 20-45354253-C-T
• MyVariant Identifiers: chr20:g.45354253C>T (hg19) ; chr20:g.46725614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725614C>T , CM000682.2:g.46725614C>T	GRCh38
NC_000020.10:g.45354253C>T , CM000682.1:g.45354253C>T	GRCh37
NC_000020.9:g.44787660C>T	NCBI36
NG_016284.1:g.20975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.578C>T MANE Select	ENSP00000352216.2:p.Ala193Val
ENST00000359271.3:c.578C>T	ENSP00000352216.2:p.Ala193Val
NM_030777.3:c.578C>T	NP_110404.1:p.Ala193Val
XM_011529060.1:c.641C>T	XP_011527362.1:p.Ala214Val
XM_011529061.1:c.587C>T	XP_011527363.1:p.Ala196Val
XM_011529062.1:c.641C>T	XP_011527364.1:p.Ala214Val
XM_011529063.1:c.641C>T	XP_011527365.1:p.Ala214Val
XM_011529064.1:c.641C>T	XP_011527366.1:p.Ala214Val
XM_011529065.1:c.641C>T	XP_011527367.1:p.Ala214Val
XR_936641.1:n.777C>T
XM_011529060.2:c.641C>T	XP_011527362.1:p.Ala214Val
XM_011529061.2:c.587C>T	XP_011527363.1:p.Ala196Val
XM_011529062.2:c.641C>T	XP_011527364.1:p.Ala214Val
XM_011529063.2:c.641C>T	XP_011527365.1:p.Ala214Val
XM_011529064.2:c.641C>T	XP_011527366.1:p.Ala214Val
XM_011529065.2:c.641C>T	XP_011527367.1:p.Ala214Val
XM_017028087.2:c.578C>T	XP_016883576.1:p.Ala193Val
XR_936641.2:n.764C>T
NM_030777.4:c.578C>T MANE Select	NP_110404.1:p.Ala193Val