Canonical Allele Identifier: CA9892005
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46725635C>G
GRCh37 chr20:g.45354274C>G
Revel Score:
ENST00000359271 (MANE Select) 0.172
gnomAD v2:
20:45354274 C / G
gnomAD v3:
20:46725635 C / G
gnomAD v4:
chr20-46725635-C-G
Joint Max Group AF 0.00251153 (EAS)
Genomes Max Group AF 0.00148086 (EAS)
Exomes Max Group AF 0.00253636 (EAS)
ClinVar Allele:
403666
ClinVar RCV:
RCV000476482
RCV003235236
ClinVar Variation:
415522
dbSNP:
75218052
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725635C>G , CM000682.2:g.46725635C>G GRCh38
NC_000020.10:g.45354274C>G , CM000682.1:g.45354274C>G GRCh37
NC_000020.9:g.44787681C>G NCBI36
NG_016284.1:g.20996C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.599C>G MANE Select ENSP00000352216.2:p.Pro200Arg
ENST00000359271.3:c.599C>G ENSP00000352216.2:p.Pro200Arg
NM_030777.3:c.599C>G NP_110404.1:p.Pro200Arg
XM_011529060.1:c.662C>G XP_011527362.1:p.Pro221Arg
XM_011529061.1:c.608C>G XP_011527363.1:p.Pro203Arg
XM_011529062.1:c.662C>G XP_011527364.1:p.Pro221Arg
XM_011529063.1:c.662C>G XP_011527365.1:p.Pro221Arg
XM_011529064.1:c.662C>G XP_011527366.1:p.Pro221Arg
XM_011529065.1:c.662C>G XP_011527367.1:p.Pro221Arg
XR_936641.1:n.798C>G
XM_011529060.2:c.662C>G XP_011527362.1:p.Pro221Arg
XM_011529061.2:c.608C>G XP_011527363.1:p.Pro203Arg
XM_011529062.2:c.662C>G XP_011527364.1:p.Pro221Arg
XM_011529063.2:c.662C>G XP_011527365.1:p.Pro221Arg
XM_011529064.2:c.662C>G XP_011527366.1:p.Pro221Arg
XM_011529065.2:c.662C>G XP_011527367.1:p.Pro221Arg
XM_017028087.2:c.599C>G XP_016883576.1:p.Pro200Arg
XR_936641.2:n.785C>G
NM_030777.4:c.599C>G MANE Select NP_110404.1:p.Pro200Arg
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