Canonical Allele Identifier: CA252651

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3272
• ClinVar RCV Id: RCV000003431 ; RCV001851616
• dbSNP Id: rs121434264
• MyVariant Identifiers: chr1:g.193094301T>C (hg19) ; chr1:g.193125171T>C (hg38)
• PubMed: PMID:12434154

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193125171T>C , CM000663.2:g.193125171T>C	GRCh38
NC_000001.10:g.193094301T>C , CM000663.1:g.193094301T>C	GRCh37
NC_000001.9:g.191360924T>C	NCBI36
NG_012691.1:g.8214T>C , LRG_507:g.8214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.191T>C MANE Select	ENSP00000356405.4:p.Leu64Pro
ENST00000635846.1:c.191T>C	ENSP00000490035.1:p.Leu64Pro
ENST00000643006.1:c.191T>C	ENSP00000496633.1:p.Leu64Pro
ENST00000643784.1:c.191T>C	ENSP00000494944.1:p.Leu64Pro
ENST00000647662.1:n.92T>C
ENST00000648071.1:c.191T>C	ENSP00000497513.1:p.Leu64Pro
ENST00000649606.1:n.204T>C
ENST00000649706.1:n.132T>C
ENST00000649895.1:n.409T>C
ENST00000650197.1:c.191T>C	ENSP00000496929.1:p.Leu64Pro
ENST00000367435.3:c.191T>C	ENSP00000356405.3:p.Leu64Pro
ENST00000482484.1:n.152T>C
NM_024529.4:c.191T>C , LRG_507t1:c.191T>C	NP_078805.3:p.Leu64Pro
XM_006711537.2:c.191T>C	XP_006711600.1:p.Leu64Pro
XR_241165.2:n.304-864A>G
XM_006711537.4:c.191T>C	XP_006711600.1:p.Leu64Pro
NM_024529.5:c.191T>C MANE Select	NP_078805.3:p.Leu64Pro