Canonical Allele Identifier: CA15704367
Gene: UVRAG-DT HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.75813751C>T
GRCh37 chr11:g.75524796C>T
gnomAD v2:
11:75524796 C / T
gnomAD v3:
11:75813751 C / T
gnomAD v4:
chr11-75813751-C-T
Joint Max Group AF 0.33657167 (AFR)
Genomes Max Group AF 0.33657167 (AFR)
Exomes Max Group AF 0.04441926 (NFE)
dbSNP:
1458836
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75813751C>T , CM000673.2:g.75813751C>T GRCh38
NC_000011.9:g.75524796C>T , CM000673.1:g.75524796C>T GRCh37
NC_000011.8:g.75202444C>T NCBI36
NG_046930.1:g.3585C>T

Transcript Alleles

HGVS Amino-acid Change
XR_110893.3:n.446G>A
XR_428959.2:n.447G>A
XR_950318.1:n.446G>A
XR_950319.1:n.446G>A
XR_950320.1:n.446G>A
XR_950321.1:n.446G>A
XR_950322.1:n.446G>A
XR_950323.1:n.458+712G>A
XR_950324.1:n.363G>A
XR_950325.1:n.360G>A
NR_144531.1:n.446G>A
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