Canonical Allele Identifier: CA528019129
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 873695
ClinVar RCV Id: RCV001096057 RCV001101505 RCV001101504
dbSNP Id: rs1269411417
gnomAD v2: 1-193221138-C-G
gnomAD v4: 1-193252008-C-G
MyVariant Identifiers: chr1:g.193221138C>G (hg19) chr1:g.193252008C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193252008C>G , CM000663.2:g.193252008C>G GRCh38
NC_000001.10:g.193221138C>G , CM000663.1:g.193221138C>G GRCh37
NC_000001.9:g.191487761C>G NCBI36
NG_012691.1:g.135051C>G , LRG_507:g.135051C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.*1296C>G MANE Select ENSP00000356405.4:n.*1296C>G
ENST00000635846.1:c.*1296C>G ENSP00000490035.1:n.*1296C>G
ENST00000643006.1:c.*1802C>G ENSP00000496633.1:n.*1802C>G
ENST00000367435.3:c.*1296C>G ENSP00000356405.3:n.*1296C>G
NM_024529.4:c.*1296C>G , LRG_507t1:c.*1296C>G NP_078805.3:n.*1296C>G
NM_024529.5:c.*1296C>G MANE Select NP_078805.3:n.*1296C>G
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