Canonical Allele Identifier: CA409266928
Gene: SLC2A10 HGNC NCBI

Linked Data

ClinVar Variation Id: 535833
ClinVar RCV Id: RCV000644031
dbSNP Id: rs376346077

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725431G>T , CM000682.2:g.46725431G>T GRCh38
NC_000020.10:g.45354070G>T , CM000682.1:g.45354070G>T GRCh37
NC_000020.9:g.44787477G>T NCBI36
NG_016284.1:g.20792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.395G>T MANE Select ENSP00000352216.2:p.Arg132Leu
ENST00000359271.3:c.395G>T ENSP00000352216.2:p.Arg132Leu
ENST00000611837.1:n.547G>T
NM_030777.3:c.395G>T NP_110404.1:p.Arg132Leu
XM_011529060.1:c.458G>T XP_011527362.1:p.Arg153Leu
XM_011529061.1:c.404G>T XP_011527363.1:p.Arg135Leu
XM_011529062.1:c.458G>T XP_011527364.1:p.Arg153Leu
XM_011529063.1:c.458G>T XP_011527365.1:p.Arg153Leu
XM_011529064.1:c.458G>T XP_011527366.1:p.Arg153Leu
XM_011529065.1:c.458G>T XP_011527367.1:p.Arg153Leu
XR_936641.1:n.594G>T
XM_011529060.2:c.458G>T XP_011527362.1:p.Arg153Leu
XM_011529061.2:c.404G>T XP_011527363.1:p.Arg135Leu
XM_011529062.2:c.458G>T XP_011527364.1:p.Arg153Leu
XM_011529063.2:c.458G>T XP_011527365.1:p.Arg153Leu
XM_011529064.2:c.458G>T XP_011527366.1:p.Arg153Leu
XM_011529065.2:c.458G>T XP_011527367.1:p.Arg153Leu
XM_017028087.2:c.395G>T XP_016883576.1:p.Arg132Leu
XR_936641.2:n.581G>T
NM_030777.4:c.395G>T MANE Select NP_110404.1:p.Arg132Leu