Canonical Allele Identifier: CA343962822
Gene: CDC73 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193142050T>G , CM000663.2:g.193142050T>G GRCh38
NC_000001.10:g.193111180T>G , CM000663.1:g.193111180T>G GRCh37
NC_000001.9:g.191377803T>G NCBI36
NG_012691.1:g.25093T>G , LRG_507:g.25093T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.713T>G MANE Select ENSP00000356405.4:p.Leu238Ter
ENST00000635846.1:c.713T>G ENSP00000490035.1:p.Leu238Ter
ENST00000643006.1:c.713T>G ENSP00000496633.1:p.Leu238Ter
ENST00000643784.1:c.*189T>G ENSP00000494944.1:n.*189T>G
ENST00000647662.1:n.614T>G
ENST00000648071.1:c.*689T>G ENSP00000497513.1:n.*689T>G
ENST00000649606.1:n.726T>G
ENST00000649895.1:n.931T>G
ENST00000650197.1:c.713T>G ENSP00000496929.1:p.Leu238Ter
ENST00000367435.3:c.713T>G ENSP00000356405.3:p.Leu238Ter
NM_024529.4:c.713T>G , LRG_507t1:c.713T>G NP_078805.3:p.Leu238Ter
XM_006711537.2:c.713T>G XP_006711600.1:p.Leu238Ter
XM_006711537.4:c.713T>G XP_006711600.1:p.Leu238Ter
NM_024529.5:c.713T>G MANE Select NP_078805.3:p.Leu238Ter