Canonical Allele Identifier: CA1303805
Gene: CDC73 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.193233074G>A
GRCh37 chr1:g.193202204G>A
Revel Score:
ENST00000367435 (MANE Select) 0.111
gnomAD v2:
1:193202204 G / A
gnomAD v3:
1:193233074 G / A
gnomAD v4:
chr1-193233074-G-A
Joint Max Group AF 0.00003473 (AFR)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.00002376 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193233074G>A , CM000663.2:g.193233074G>A GRCh38
NC_000001.10:g.193202204G>A , CM000663.1:g.193202204G>A GRCh37
NC_000001.9:g.191468827G>A NCBI36
NG_012691.1:g.116117G>A , LRG_507:g.116117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.1236G>A MANE Select ENSP00000356405.4:p.Met412Ile
ENST00000635846.1:c.993G>A ENSP00000490035.1:p.Met331Ile
ENST00000643006.1:c.*146G>A ENSP00000496633.1:n.*146G>A
ENST00000648071.1:c.*1212G>A ENSP00000497513.1:n.*1212G>A
ENST00000649613.1:n.486G>A
ENST00000649895.1:n.1454G>A
ENST00000650197.1:c.1236G>A ENSP00000496929.1:p.Met412Ile
ENST00000367435.3:c.1236G>A ENSP00000356405.3:p.Met412Ile
ENST00000477868.1:n.49G>A
NM_024529.4:c.1236G>A , LRG_507t1:c.1236G>A NP_078805.3:p.Met412Ile
NM_024529.5:c.1236G>A MANE Select NP_078805.3:p.Met412Ile
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