Canonical Allele Identifier: CA343961378

Gene: CDC73

Linked Data

• ClinVar Variation Id: 462764
• ClinVar RCV Id: RCV000526998
• dbSNP Id: rs1553279088
• MyVariant Identifiers: chr1:g.193107296C>T (hg19) ; chr1:g.193138166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193138166C>T , CM000663.2:g.193138166C>T	GRCh38
NC_000001.10:g.193107296C>T , CM000663.1:g.193107296C>T	GRCh37
NC_000001.9:g.191373919C>T	NCBI36
NG_012691.1:g.21209C>T , LRG_507:g.21209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.505C>T MANE Select	ENSP00000356405.4:p.Gln169Ter
ENST00000635846.1:c.505C>T	ENSP00000490035.1:p.Gln169Ter
ENST00000643006.1:c.505C>T	ENSP00000496633.1:p.Gln169Ter
ENST00000643784.1:c.505C>T	ENSP00000494944.1:p.Gln169Ter
ENST00000647662.1:n.406C>T
ENST00000648071.1:c.*481C>T	ENSP00000497513.1:n.*481C>T
ENST00000649606.1:n.518C>T
ENST00000649706.1:n.446C>T
ENST00000649895.1:n.723C>T
ENST00000650197.1:c.505C>T	ENSP00000496929.1:p.Gln169Ter
ENST00000367435.3:c.505C>T	ENSP00000356405.3:p.Gln169Ter
ENST00000482484.1:n.757C>T
NM_024529.4:c.505C>T , LRG_507t1:c.505C>T	NP_078805.3:p.Gln169Ter
XM_006711537.2:c.505C>T	XP_006711600.1:p.Gln169Ter
XM_006711537.4:c.505C>T	XP_006711600.1:p.Gln169Ter
NM_024529.5:c.505C>T MANE Select	NP_078805.3:p.Gln169Ter