Canonical Allele Identifier: CA322851
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46726046G>C
GRCh37 chr20:g.45354685G>C
Revel Score:
ENST00000359271 (MANE Select) 0.128
gnomAD v2:
20:45354685 G / C
gnomAD v3:
20:46726046 G / C
gnomAD v4:
chr20-46726046-G-C
Joint Max Group AF 0.00216161 (AFR)
Genomes Max Group AF 0.00204434 (AFR)
Exomes Max Group AF 0.00204883 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46726046G>C , CM000682.2:g.46726046G>C GRCh38
NC_000020.10:g.45354685G>C , CM000682.1:g.45354685G>C GRCh37
NC_000020.9:g.44788092G>C NCBI36
NG_016284.1:g.21407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.1010G>C MANE Select ENSP00000352216.2:p.Gly337Ala
ENST00000359271.3:c.1010G>C ENSP00000352216.2:p.Gly337Ala
NM_030777.3:c.1010G>C NP_110404.1:p.Gly337Ala
XM_011529060.1:c.1073G>C XP_011527362.1:p.Gly358Ala
XM_011529061.1:c.1019G>C XP_011527363.1:p.Gly340Ala
XM_011529062.1:c.1073G>C XP_011527364.1:p.Gly358Ala
XM_011529063.1:c.1073G>C XP_011527365.1:p.Gly358Ala
XM_011529064.1:c.1073G>C XP_011527366.1:p.Gly358Ala
XM_011529065.1:c.1073G>C XP_011527367.1:p.Gly358Ala
XR_936641.1:n.1209G>C
XM_011529060.2:c.1073G>C XP_011527362.1:p.Gly358Ala
XM_011529061.2:c.1019G>C XP_011527363.1:p.Gly340Ala
XM_011529062.2:c.1073G>C XP_011527364.1:p.Gly358Ala
XM_011529063.2:c.1073G>C XP_011527365.1:p.Gly358Ala
XM_011529064.2:c.1073G>C XP_011527366.1:p.Gly358Ala
XM_011529065.2:c.1073G>C XP_011527367.1:p.Gly358Ala
XM_017028087.2:c.1010G>C XP_016883576.1:p.Gly337Ala
XR_936641.2:n.1196G>C
NM_030777.4:c.1010G>C MANE Select NP_110404.1:p.Gly337Ala
Search 100 bp 5'
Search 100 bp 3'