Canonical Allele Identifier: CA422345118

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1656668
• ClinVar RCV Id: RCV002161960
• dbSNP Id: rs1675913192
• MyVariant Identifiers: chr1:g.193111058C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141928C>T , CM000663.2:g.193141928C>T	GRCh38
NC_000001.10:g.193111058C>T , CM000663.1:g.193111058C>T	GRCh37
NC_000001.9:g.191377681C>T	NCBI36
NG_012691.1:g.24971C>T , LRG_507:g.24971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.591C>T MANE Select	ENSP00000356405.4:p.Ile197=
ENST00000635846.1:c.591C>T	ENSP00000490035.1:p.Ile197=
ENST00000643006.1:c.591C>T	ENSP00000496633.1:p.Ile197=
ENST00000643784.1:c.*67C>T	ENSP00000494944.1:n.*67C>T
ENST00000647662.1:n.492C>T
ENST00000648071.1:c.*567C>T	ENSP00000497513.1:n.*567C>T
ENST00000649606.1:n.604C>T
ENST00000649706.1:n.532C>T
ENST00000649895.1:n.809C>T
ENST00000650197.1:c.591C>T	ENSP00000496929.1:p.Ile197=
ENST00000367435.3:c.591C>T	ENSP00000356405.3:p.Ile197=
NM_024529.4:c.591C>T , LRG_507t1:c.591C>T	NP_078805.3:p.Ile197=
XM_006711537.2:c.591C>T	XP_006711600.1:p.Ile197=
XM_006711537.4:c.591C>T	XP_006711600.1:p.Ile197=
NM_024529.5:c.591C>T MANE Select	NP_078805.3:p.Ile197=