Canonical Allele Identifier: CA9892050
Gene: SLC2A10 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.46725846G>C
GRCh37 chr20:g.45354485G>C
gnomAD v2:
20:45354485 G / C
gnomAD v3:
20:46725846 G / C
gnomAD v4:
chr20-46725846-G-C
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar Allele:
351086
ClinVar RCV:
RCV000326716
RCV000611666
ClinVar Variation:
338593
dbSNP:
774452914
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46725846G>C , CM000682.2:g.46725846G>C GRCh38
NC_000020.10:g.45354485G>C , CM000682.1:g.45354485G>C GRCh37
NC_000020.9:g.44787892G>C NCBI36
NG_016284.1:g.21207G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359271.4:c.810G>C MANE Select ENSP00000352216.2:p.Val270=
ENST00000359271.3:c.810G>C ENSP00000352216.2:p.Val270=
NM_030777.3:c.810G>C NP_110404.1:p.Val270=
XM_011529060.1:c.873G>C XP_011527362.1:p.Val291=
XM_011529061.1:c.819G>C XP_011527363.1:p.Val273=
XM_011529062.1:c.873G>C XP_011527364.1:p.Val291=
XM_011529063.1:c.873G>C XP_011527365.1:p.Val291=
XM_011529064.1:c.873G>C XP_011527366.1:p.Val291=
XM_011529065.1:c.873G>C XP_011527367.1:p.Val291=
XR_936641.1:n.1009G>C
XM_011529060.2:c.873G>C XP_011527362.1:p.Val291=
XM_011529061.2:c.819G>C XP_011527363.1:p.Val273=
XM_011529062.2:c.873G>C XP_011527364.1:p.Val291=
XM_011529063.2:c.873G>C XP_011527365.1:p.Val291=
XM_011529064.2:c.873G>C XP_011527366.1:p.Val291=
XM_011529065.2:c.873G>C XP_011527367.1:p.Val291=
XM_017028087.2:c.810G>C XP_016883576.1:p.Val270=
XR_936641.2:n.996G>C
NM_030777.4:c.810G>C MANE Select NP_110404.1:p.Val270=
Search 100 bp 5'
Search 100 bp 3'