Canonical Allele Identifier: CA320576
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46733779G>A
GRCh37 chr20:g.45362418G>A
Revel Score:
ENST00000359271 (MANE Select) 0.169
gnomAD v2:
20:45362418 G / A
gnomAD v3:
20:46733779 G / A
gnomAD v4:
chr20-46733779-G-A
Joint Max Group AF 0.00012664 (NFE)
Genomes Max Group AF 0.000124 (NFE)
Exomes Max Group AF 0.00012268 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46733779G>A , CM000682.2:g.46733779G>A GRCh38
NC_000020.10:g.45362418G>A , CM000682.1:g.45362418G>A GRCh37
NC_000020.9:g.44795825G>A NCBI36
NG_016284.1:g.29140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.1571G>A MANE Select ENSP00000352216.2:p.Arg524Lys
ENST00000359271.3:c.1571G>A ENSP00000352216.2:p.Arg524Lys
NM_030777.3:c.1571G>A NP_110404.1:p.Arg524Lys
XM_011529060.1:c.1634G>A XP_011527362.1:p.Arg545Lys
XM_011529061.1:c.1580G>A XP_011527363.1:p.Arg527Lys
XM_011529062.1:c.1547G>A XP_011527364.1:p.Arg516Lys
XM_011529065.1:c.*13G>A XP_011527367.1:n.*13G>A
XR_936641.1:n.1819G>A
XM_011529060.2:c.1634G>A XP_011527362.1:p.Arg545Lys
XM_011529061.2:c.1580G>A XP_011527363.1:p.Arg527Lys
XM_011529062.2:c.1547G>A XP_011527364.1:p.Arg516Lys
XM_011529065.2:c.*13G>A XP_011527367.1:n.*13G>A
XM_017028087.2:c.*13G>A XP_016883576.1:n.*13G>A
XR_936641.2:n.1806G>A
NM_030777.4:c.1571G>A MANE Select NP_110404.1:p.Arg524Lys
Search 100 bp 5'
Search 100 bp 3'