Canonical Allele Identifier: CA343962679

Gene: CDC73

Linked Data

• MyVariant Identifiers: chr1:g.193111116G>A (hg19) ; chr1:g.193141986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141986G>A , CM000663.2:g.193141986G>A	GRCh38
NC_000001.10:g.193111116G>A , CM000663.1:g.193111116G>A	GRCh37
NC_000001.9:g.191377739G>A	NCBI36
NG_012691.1:g.25029G>A , LRG_507:g.25029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.649G>A MANE Select	ENSP00000356405.4:p.Glu217Lys
ENST00000635846.1:c.649G>A	ENSP00000490035.1:p.Glu217Lys
ENST00000643006.1:c.649G>A	ENSP00000496633.1:p.Glu217Lys
ENST00000643784.1:c.*125G>A	ENSP00000494944.1:n.*125G>A
ENST00000647662.1:n.550G>A
ENST00000648071.1:c.*625G>A	ENSP00000497513.1:n.*625G>A
ENST00000649606.1:n.662G>A
ENST00000649895.1:n.867G>A
ENST00000650197.1:c.649G>A	ENSP00000496929.1:p.Glu217Lys
ENST00000367435.3:c.649G>A	ENSP00000356405.3:p.Glu217Lys
NM_024529.4:c.649G>A , LRG_507t1:c.649G>A	NP_078805.3:p.Glu217Lys
XM_006711537.2:c.649G>A	XP_006711600.1:p.Glu217Lys
XM_006711537.4:c.649G>A	XP_006711600.1:p.Glu217Lys
NM_024529.5:c.649G>A MANE Select	NP_078805.3:p.Glu217Lys