Canonical Allele Identifier: CA323937
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46725350G>A
GRCh37 chr20:g.45353989G>A
Revel Score:
ENST00000359271 (MANE Select) 0.922
gnomAD v2:
20:45353989 G / A
gnomAD v3:
20:46725350 G / A
gnomAD v4:
chr20-46725350-G-A
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00000924 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725350G>A , CM000682.2:g.46725350G>A GRCh38
NC_000020.10:g.45353989G>A , CM000682.1:g.45353989G>A GRCh37
NC_000020.9:g.44787396G>A NCBI36
NG_016284.1:g.20711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.314G>A MANE Select ENSP00000352216.2:p.Arg105His
ENST00000359271.3:c.314G>A ENSP00000352216.2:p.Arg105His
ENST00000611837.1:n.466G>A
NM_030777.3:c.314G>A NP_110404.1:p.Arg105His
XM_011529060.1:c.377G>A XP_011527362.1:p.Arg126His
XM_011529061.1:c.323G>A XP_011527363.1:p.Arg108His
XM_011529062.1:c.377G>A XP_011527364.1:p.Arg126His
XM_011529063.1:c.377G>A XP_011527365.1:p.Arg126His
XM_011529064.1:c.377G>A XP_011527366.1:p.Arg126His
XM_011529065.1:c.377G>A XP_011527367.1:p.Arg126His
XR_936641.1:n.513G>A
XM_011529060.2:c.377G>A XP_011527362.1:p.Arg126His
XM_011529061.2:c.323G>A XP_011527363.1:p.Arg108His
XM_011529062.2:c.377G>A XP_011527364.1:p.Arg126His
XM_011529063.2:c.377G>A XP_011527365.1:p.Arg126His
XM_011529064.2:c.377G>A XP_011527366.1:p.Arg126His
XM_011529065.2:c.377G>A XP_011527367.1:p.Arg126His
XM_017028087.2:c.314G>A XP_016883576.1:p.Arg105His
XR_936641.2:n.500G>A
NM_030777.4:c.314G>A MANE Select NP_110404.1:p.Arg105His
Search 100 bp 5'
Search 100 bp 3'