Canonical Allele Identifier: CA215914
Gene: CDC73 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.193233142T>C
GRCh37 chr1:g.193202272T>C
Revel Score:
ENST00000367435 (MANE Select) 0.194
gnomAD v2:
1:193202272 T / C
gnomAD v3:
1:193233142 T / C
gnomAD v4:
chr1-193233142-T-C
Joint Max Group AF 0.00001806 (NFE)
Genomes Max Group AF 0.00000797 (AFR)
Exomes Max Group AF 0.00001748 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193233142T>C , CM000663.2:g.193233142T>C GRCh38
NC_000001.10:g.193202272T>C , CM000663.1:g.193202272T>C GRCh37
NC_000001.9:g.191468895T>C NCBI36
NG_012691.1:g.116185T>C , LRG_507:g.116185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.1304T>C MANE Select ENSP00000356405.4:p.Met435Thr
ENST00000635846.1:c.1061T>C ENSP00000490035.1:p.Met354Thr
ENST00000643006.1:c.*214T>C ENSP00000496633.1:n.*214T>C
ENST00000648071.1:c.*1280T>C ENSP00000497513.1:n.*1280T>C
ENST00000649613.1:n.554T>C
ENST00000649895.1:n.1522T>C
ENST00000650197.1:c.1304T>C ENSP00000496929.1:p.Met435Thr
ENST00000367435.3:c.1304T>C ENSP00000356405.3:p.Met435Thr
ENST00000477868.1:n.117T>C
NM_024529.4:c.1304T>C , LRG_507t1:c.1304T>C NP_078805.3:p.Met435Thr
NM_024529.5:c.1304T>C MANE Select NP_078805.3:p.Met435Thr
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