Canonical Allele Identifier: CA1303837
Gene: CDC73 HGNC NCBI
COSMIC:
COSM901401
MyVariant.info:
GRCh38 chr1:g.193236272G>A
GRCh37 chr1:g.193205402G>A
Revel Score:
ENST00000367435 (MANE Select) 0.445
gnomAD v2:
1:193205402 G / A
gnomAD v3:
1:193236272 G / A
gnomAD v4:
chr1-193236272-G-A
Joint Max Group AF 0.00009112 (NFE)
Genomes Max Group AF 0.0000791 (NFE)
Exomes Max Group AF 0.00008854 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193236272G>A , CM000663.2:g.193236272G>A GRCh38
NC_000001.10:g.193205402G>A , CM000663.1:g.193205402G>A GRCh37
NC_000001.9:g.191472025G>A NCBI36
NG_012691.1:g.119315G>A , LRG_507:g.119315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.1333G>A MANE Select ENSP00000356405.4:p.Val445Ile
ENST00000635846.1:c.1090G>A ENSP00000490035.1:p.Val364Ile
ENST00000643006.1:c.*243G>A ENSP00000496633.1:n.*243G>A
ENST00000648071.1:c.*1309G>A ENSP00000497513.1:n.*1309G>A
ENST00000649613.1:n.583G>A
ENST00000649895.1:n.1551G>A
ENST00000650197.1:c.1333G>A ENSP00000496929.1:p.Val445Ile
ENST00000367435.3:c.1333G>A ENSP00000356405.3:p.Val445Ile
ENST00000477868.1:n.129+3118G>A
NM_024529.4:c.1333G>A , LRG_507t1:c.1333G>A NP_078805.3:p.Val445Ile
NM_024529.5:c.1333G>A MANE Select NP_078805.3:p.Val445Ile
Search 100 bp 5'
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