Canonical Allele Identifier: CA344078469

Gene: CDC73

Linked Data

• dbSNP Id: rs2102073395
• MyVariant Identifiers: chr1:g.193218919G>A (hg19) ; chr1:g.193249789G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249789G>A , CM000663.2:g.193249789G>A	GRCh38
NC_000001.10:g.193218919G>A , CM000663.1:g.193218919G>A	GRCh37
NC_000001.9:g.191485542G>A	NCBI36
NG_012691.1:g.132832G>A , LRG_507:g.132832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1477G>A MANE Select	ENSP00000356405.4:p.Asp493Asn
ENST00000635846.1:c.1234G>A	ENSP00000490035.1:p.Asp412Asn
ENST00000643006.1:c.*387G>A	ENSP00000496633.1:n.*387G>A
ENST00000648071.1:c.*1453G>A	ENSP00000497513.1:n.*1453G>A
ENST00000649613.1:n.727G>A
ENST00000650197.1:c.*175G>A	ENSP00000496929.1:n.*175G>A
ENST00000367435.3:c.1477G>A	ENSP00000356405.3:p.Asp493Asn
ENST00000477868.1:n.189G>A
NM_024529.4:c.1477G>A , LRG_507t1:c.1477G>A	NP_078805.3:p.Asp493Asn
NM_024529.5:c.1477G>A MANE Select	NP_078805.3:p.Asp493Asn