Canonical Allele Identifier: CA16609951

Gene: CDC73

Linked Data

• ClinVar Variation Id: 403886
• ClinVar RCV Id: RCV000472304
• dbSNP Id: rs1060500015
• MyVariant Identifiers: chr1:g.193094298T>C (hg19) ; chr1:g.193125168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193125168T>C , CM000663.2:g.193125168T>C	GRCh38
NC_000001.10:g.193094298T>C , CM000663.1:g.193094298T>C	GRCh37
NC_000001.9:g.191360921T>C	NCBI36
NG_012691.1:g.8211T>C , LRG_507:g.8211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.188T>C MANE Select	ENSP00000356405.4:p.Leu63Pro
ENST00000635846.1:c.188T>C	ENSP00000490035.1:p.Leu63Pro
ENST00000643006.1:c.188T>C	ENSP00000496633.1:p.Leu63Pro
ENST00000643784.1:c.188T>C	ENSP00000494944.1:p.Leu63Pro
ENST00000647662.1:n.89T>C
ENST00000648071.1:c.188T>C	ENSP00000497513.1:p.Leu63Pro
ENST00000649606.1:n.201T>C
ENST00000649706.1:n.129T>C
ENST00000649895.1:n.406T>C
ENST00000650197.1:c.188T>C	ENSP00000496929.1:p.Leu63Pro
ENST00000367435.3:c.188T>C	ENSP00000356405.3:p.Leu63Pro
ENST00000482484.1:n.149T>C
NM_024529.4:c.188T>C , LRG_507t1:c.188T>C	NP_078805.3:p.Leu63Pro
XM_006711537.2:c.188T>C	XP_006711600.1:p.Leu63Pro
XR_241165.2:n.304-861A>G
XM_006711537.4:c.188T>C	XP_006711600.1:p.Leu63Pro
NM_024529.5:c.188T>C MANE Select	NP_078805.3:p.Leu63Pro