Canonical Allele Identifier: CA344078552

Gene: CDC73

Linked Data

• dbSNP Id: rs1558326147
• MyVariant Identifiers: chr1:g.193218955C>A (hg19) ; chr1:g.193249825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249825C>A , CM000663.2:g.193249825C>A	GRCh38
NC_000001.10:g.193218955C>A , CM000663.1:g.193218955C>A	GRCh37
NC_000001.9:g.191485578C>A	NCBI36
NG_012691.1:g.132868C>A , LRG_507:g.132868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1513C>A MANE Select	ENSP00000356405.4:p.His505Asn
ENST00000635846.1:c.1270C>A	ENSP00000490035.1:p.His424Asn
ENST00000643006.1:c.*423C>A	ENSP00000496633.1:n.*423C>A
ENST00000648071.1:c.*1489C>A	ENSP00000497513.1:n.*1489C>A
ENST00000649613.1:n.763C>A
ENST00000650197.1:c.*211C>A	ENSP00000496929.1:n.*211C>A
ENST00000367435.3:c.1513C>A	ENSP00000356405.3:p.His505Asn
ENST00000477868.1:n.225C>A
NM_024529.4:c.1513C>A , LRG_507t1:c.1513C>A	NP_078805.3:p.His505Asn
NM_024529.5:c.1513C>A MANE Select	NP_078805.3:p.His505Asn