Canonical Allele Identifier: CA1303872

Gene: CDC73

Linked Data

• ClinVar Variation Id: 462752
• ClinVar RCV Id: RCV002404417 ; RCV002497110
• dbSNP Id: rs752668844
• ExAC: 1:193218993 A / G
• gnomAD v2: 1-193218993-A-G
• gnomAD v3: 1-193249863-A-G
• gnomAD v4: 1-193249863-A-G
• MyVariant Identifiers: chr1:g.193218993A>G (hg19) ; chr1:g.193249863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249863A>G , CM000663.2:g.193249863A>G	GRCh38
NC_000001.10:g.193218993A>G , CM000663.1:g.193218993A>G	GRCh37
NC_000001.9:g.191485616A>G	NCBI36
NG_012691.1:g.132906A>G , LRG_507:g.132906A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367435.5:c.1551A>G MANE Select	ENSP00000356405.4:p.Thr517=
ENST00000635846.1:c.1308A>G	ENSP00000490035.1:p.Thr436=
ENST00000643006.1:c.*461A>G	ENSP00000496633.1:n.*461A>G
ENST00000648071.1:c.*1527A>G	ENSP00000497513.1:n.*1527A>G
ENST00000649613.1:n.801A>G
ENST00000650197.1:c.*249A>G	ENSP00000496929.1:n.*249A>G
ENST00000367435.3:c.1551A>G	ENSP00000356405.3:p.Thr517=
ENST00000477868.1:n.263A>G
NM_024529.4:c.1551A>G , LRG_507t1:c.1551A>G	NP_078805.3:p.Thr517=
NM_024529.5:c.1551A>G MANE Select	NP_078805.3:p.Thr517=