Canonical Allele Identifier: CA11915353
Gene: CEP72-DT HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.609978C>T
GRCh37 chr5:g.610093C>T
gnomAD v2:
5:610093 C / T
gnomAD v3:
5:609978 C / T
gnomAD v4:
chr5-609978-C-T
Joint Max Group AF 0.41064334 (NFE)
Genomes Max Group AF 0.41064334 (NFE)
dbSNP:
924607
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.609978C>T , CM000667.2:g.609978C>T GRCh38
NC_000005.9:g.610093C>T , CM000667.1:g.610093C>T GRCh37
NC_000005.8:g.663093C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_103444.1:n.366+1469G>A
XR_925672.1:n.4781C>T
XR_925673.1:n.4681C>T
XR_925674.1:n.4533C>T
XR_925672.3:n.4610C>T
XR_925673.2:n.4668C>T
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