Canonical Allele Identifier: CA14757866
Gene: R3HDML-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.44351879C>T
GRCh37 chr20:g.42980519C>T
gnomAD v2:
20:42980519 C / T
gnomAD v3:
20:44351879 C / T
gnomAD v4:
chr20-44351879-C-T
Joint Max Group AF 0.42560595 (EAS)
Genomes Max Group AF 0.42548908 (EAS)
Exomes Max Group AF 0.25704126 (EAS)
dbSNP:
1884614
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44351879C>T , CM000682.2:g.44351879C>T GRCh38
NC_000020.10:g.42980519C>T , CM000682.1:g.42980519C>T GRCh37
NC_000020.9:g.42413933C>T NCBI36
NG_009818.1:g.1079C>T , LRG_483:g.1079C>T

Transcript Alleles

HGVS Amino-acid Change
XR_936745.1:n.475G>A
XR_936746.1:n.479G>A
XR_936747.1:n.394G>A
XR_936748.1:n.267G>A
XR_936749.1:n.479G>A
XR_936750.1:n.274G>A
XR_001754617.2:n.486G>A
XR_001754618.1:n.486G>A
XR_936745.2:n.486G>A
XR_936746.2:n.486G>A
XR_936747.3:n.455G>A
XR_936748.3:n.266G>A
XR_936749.3:n.486G>A
XR_936750.3:n.334G>A
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