Canonical Allele Identifier: CA321752
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46726244G>A
GRCh37 chr20:g.45354883G>A
Revel Score:
ENST00000359271 (MANE Select) 0.113
gnomAD v2:
20:45354883 G / A
gnomAD v3:
20:46726244 G / A
gnomAD v4:
chr20-46726244-G-A
Joint Max Group AF 0.0000749 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00007509 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46726244G>A , CM000682.2:g.46726244G>A GRCh38
NC_000020.10:g.45354883G>A , CM000682.1:g.45354883G>A GRCh37
NC_000020.9:g.44788290G>A NCBI36
NG_016284.1:g.21605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.1208G>A MANE Select ENSP00000352216.2:p.Arg403Gln
ENST00000359271.3:c.1208G>A ENSP00000352216.2:p.Arg403Gln
NM_030777.3:c.1208G>A NP_110404.1:p.Arg403Gln
XM_011529060.1:c.1271G>A XP_011527362.1:p.Arg424Gln
XM_011529061.1:c.1217G>A XP_011527363.1:p.Arg406Gln
XM_011529062.1:c.1271G>A XP_011527364.1:p.Arg424Gln
XM_011529063.1:c.1271G>A XP_011527365.1:p.Arg424Gln
XM_011529064.1:c.1271G>A XP_011527366.1:p.Arg424Gln
XM_011529065.1:c.1271G>A XP_011527367.1:p.Arg424Gln
XR_936641.1:n.1407G>A
XM_011529060.2:c.1271G>A XP_011527362.1:p.Arg424Gln
XM_011529061.2:c.1217G>A XP_011527363.1:p.Arg406Gln
XM_011529062.2:c.1271G>A XP_011527364.1:p.Arg424Gln
XM_011529063.2:c.1271G>A XP_011527365.1:p.Arg424Gln
XM_011529064.2:c.1271G>A XP_011527366.1:p.Arg424Gln
XM_011529065.2:c.1271G>A XP_011527367.1:p.Arg424Gln
XM_017028087.2:c.1208G>A XP_016883576.1:p.Arg403Gln
XR_936641.2:n.1394G>A
NM_030777.4:c.1208G>A MANE Select NP_110404.1:p.Arg403Gln
Search 100 bp 5'
Search 100 bp 3'