Canonical Allele Identifier: CA215914

Gene: CDC73

Linked Data

• ClinVar Variation Id: 41848
• ClinVar RCV Id: RCV000034781 ; RCV000473561 ; RCV002381287 ; RCV003460547 ; RCV002482952 ; RCV003153326
• dbSNP Id: rs202209013
• ExAC: 1:193202272 T / C
• gnomAD v2: 1-193202272-T-C
• gnomAD v3: 1-193233142-T-C
• gnomAD v4: 1-193233142-T-C
• MyVariant Identifiers: chr1:g.193202272T>C (hg19) ; chr1:g.193233142T>C (hg38)
• PubMed: PMID:22703879

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