Canonical Allele Identifier: CA343962634

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1753233
• ClinVar RCV Id: RCV002361512
• MyVariant Identifiers: chr1:g.193111105T>G (hg19) ; chr1:g.193141975T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141975T>G , CM000663.2:g.193141975T>G	GRCh38
NC_000001.10:g.193111105T>G , CM000663.1:g.193111105T>G	GRCh37
NC_000001.9:g.191377728T>G	NCBI36
NG_012691.1:g.25018T>G , LRG_507:g.25018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.638T>G MANE Select	ENSP00000356405.4:p.Phe213Cys
ENST00000635846.1:c.638T>G	ENSP00000490035.1:p.Phe213Cys
ENST00000643006.1:c.638T>G	ENSP00000496633.1:p.Phe213Cys
ENST00000643784.1:c.*114T>G	ENSP00000494944.1:n.*114T>G
ENST00000647662.1:n.539T>G
ENST00000648071.1:c.*614T>G	ENSP00000497513.1:n.*614T>G
ENST00000649606.1:n.651T>G
ENST00000649895.1:n.856T>G
ENST00000650197.1:c.638T>G	ENSP00000496929.1:p.Phe213Cys
ENST00000367435.3:c.638T>G	ENSP00000356405.3:p.Phe213Cys
NM_024529.4:c.638T>G , LRG_507t1:c.638T>G	NP_078805.3:p.Phe213Cys
XM_006711537.2:c.638T>G	XP_006711600.1:p.Phe213Cys
XM_006711537.4:c.638T>G	XP_006711600.1:p.Phe213Cys
NM_024529.5:c.638T>G MANE Select	NP_078805.3:p.Phe213Cys