Canonical Allele Identifier: CA252651
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 3272
dbSNP Id: rs121434264

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