Canonical Allele Identifier: CA16609982

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403885
• ClinVar RCV Id: RCV000464787 ; RCV001805057 ; RCV002365584
• dbSNP Id: rs1060500014
• gnomAD v4: 1-193232990-A-G
• MyVariant Identifiers: chr1:g.193202120A>G (hg19) ; chr1:g.193232990A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193232990A>G , CM000663.2:g.193232990A>G	GRCh38
NC_000001.10:g.193202120A>G , CM000663.1:g.193202120A>G	GRCh37
NC_000001.9:g.191468743A>G	NCBI36
NG_012691.1:g.116033A>G , LRG_507:g.116033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1155-3A>G MANE Select	ENSP00000356405.4:n.1155-3A>G
ENST00000635846.1:c.912-3A>G	ENSP00000490035.1:n.912-3A>G
ENST00000643006.1:c.*65-3A>G	ENSP00000496633.1:n.*65-3A>G
ENST00000648071.1:c.*1131-3A>G	ENSP00000497513.1:n.*1131-3A>G
ENST00000649613.1:n.405-3A>G
ENST00000649895.1:n.1373-3A>G
ENST00000650197.1:c.1155-3A>G	ENSP00000496929.1:n.1155-3A>G
ENST00000367435.3:c.1155-3A>G	ENSP00000356405.3:n.1155-3A>G
NM_024529.4:c.1155-3A>G , LRG_507t1:c.1155-3A>G	NP_078805.3:n.1155-3A>G
NM_024529.5:c.1155-3A>G MANE Select	NP_078805.3:n.1155-3A>G