Canonical Allele Identifier: CA422345138

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1752278
• ClinVar RCV Id: RCV002366511 ; RCV003108045
• dbSNP Id: rs2103126251
• MyVariant Identifiers: chr1:g.193111088C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141958C>T , CM000663.2:g.193141958C>T	GRCh38
NC_000001.10:g.193111088C>T , CM000663.1:g.193111088C>T	GRCh37
NC_000001.9:g.191377711C>T	NCBI36
NG_012691.1:g.25001C>T , LRG_507:g.25001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.621C>T MANE Select	ENSP00000356405.4:p.Ala207=
ENST00000635846.1:c.621C>T	ENSP00000490035.1:p.Ala207=
ENST00000643006.1:c.621C>T	ENSP00000496633.1:p.Ala207=
ENST00000643784.1:c.*97C>T	ENSP00000494944.1:n.*97C>T
ENST00000647662.1:n.522C>T
ENST00000648071.1:c.*597C>T	ENSP00000497513.1:n.*597C>T
ENST00000649606.1:n.634C>T
ENST00000649895.1:n.839C>T
ENST00000650197.1:c.621C>T	ENSP00000496929.1:p.Ala207=
ENST00000367435.3:c.621C>T	ENSP00000356405.3:p.Ala207=
NM_024529.4:c.621C>T , LRG_507t1:c.621C>T	NP_078805.3:p.Ala207=
XM_006711537.2:c.621C>T	XP_006711600.1:p.Ala207=
XM_006711537.4:c.621C>T	XP_006711600.1:p.Ala207=
NM_024529.5:c.621C>T MANE Select	NP_078805.3:p.Ala207=