Canonical Allele Identifier: CA1303709
Gene: CDC73 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.193203811G>A
GRCh37 chr1:g.193172941G>A
Revel Score:
ENST00000367435 (MANE Select) 0.355
gnomAD v2:
1:193172941 G / A
gnomAD v3:
1:193203811 G / A
gnomAD v4:
chr1-193203811-G-A
Joint Max Group AF 0.00011218 (AFR)
Genomes Max Group AF 0.0001306 (AFR)
Exomes Max Group AF 0.00007689 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193203811G>A , CM000663.2:g.193203811G>A GRCh38
NC_000001.10:g.193172941G>A , CM000663.1:g.193172941G>A GRCh37
NC_000001.9:g.191439564G>A NCBI36
NG_012691.1:g.86854G>A , LRG_507:g.86854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.989G>A MANE Select ENSP00000356405.4:p.Arg330Gln
ENST00000635846.1:c.746G>A ENSP00000490035.1:p.Arg249Gln
ENST00000643006.1:c.1057G>A ENSP00000496633.1:p.Gly353Arg
ENST00000648071.1:c.*965G>A ENSP00000497513.1:n.*965G>A
ENST00000649613.1:n.239G>A
ENST00000649895.1:n.1207G>A
ENST00000650197.1:c.989G>A ENSP00000496929.1:p.Arg330Gln
ENST00000367435.3:c.989G>A ENSP00000356405.3:p.Arg330Gln
NM_024529.4:c.989G>A , LRG_507t1:c.989G>A NP_078805.3:p.Arg330Gln
NM_024529.5:c.989G>A MANE Select NP_078805.3:p.Arg330Gln
Search 100 bp 5'
Search 100 bp 3'