Canonical Allele Identifier: CA343960416
Gene: CDC73 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193135424T>A , CM000663.2:g.193135424T>A GRCh38
NC_000001.10:g.193104554T>A , CM000663.1:g.193104554T>A GRCh37
NC_000001.9:g.191371177T>A NCBI36
NG_012691.1:g.18467T>A , LRG_507:g.18467T>A

Transcript Alleles

HGVS Amino-acid Change
NM_024529.5:c.341T>A MANE Select NP_078805.3:p.Leu114Ter
ENST00000367435.5:c.341T>A MANE Select ENSP00000356405.4:p.Leu114Ter
NM_024529.4:c.341T>A , LRG_507t1:c.341T>A NP_078805.3:p.Leu114Ter
ENST00000367435.3:c.341T>A ENSP00000356405.3:p.Leu114Ter
ENST00000482484.1:n.593T>A
ENST00000635846.1:c.341T>A ENSP00000490035.1:p.Leu114Ter
ENST00000643006.1:c.341T>A ENSP00000496633.1:p.Leu114Ter
ENST00000643784.1:c.341T>A ENSP00000494944.1:p.Leu114Ter
ENST00000647662.1:n.242T>A
ENST00000648071.1:c.*317T>A ENSP00000497513.1:n.*317T>A
ENST00000649606.1:n.354T>A
ENST00000649706.1:n.282T>A
ENST00000649895.1:n.559T>A
ENST00000650197.1:c.341T>A ENSP00000496929.1:p.Leu114Ter
XM_006711537.2:c.341T>A XP_006711600.1:p.Leu114Ter
XM_006711537.4:c.341T>A XP_006711600.1:p.Leu114Ter