Canonical Allele Identifier: CA344078492

Gene: CDC73

Linked Data

• dbSNP Id: rs2102073437
• MyVariant Identifiers: chr1:g.193218929T>A (hg19) ; chr1:g.193249799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193249799T>A , CM000663.2:g.193249799T>A	GRCh38
NC_000001.10:g.193218929T>A , CM000663.1:g.193218929T>A	GRCh37
NC_000001.9:g.191485552T>A	NCBI36
NG_012691.1:g.132842T>A , LRG_507:g.132842T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1487T>A MANE Select	ENSP00000356405.4:p.Val496Glu
ENST00000635846.1:c.1244T>A	ENSP00000490035.1:p.Val415Glu
ENST00000643006.1:c.*397T>A	ENSP00000496633.1:n.*397T>A
ENST00000648071.1:c.*1463T>A	ENSP00000497513.1:n.*1463T>A
ENST00000649613.1:n.737T>A
ENST00000650197.1:c.*185T>A	ENSP00000496929.1:n.*185T>A
ENST00000367435.3:c.1487T>A	ENSP00000356405.3:p.Val496Glu
ENST00000477868.1:n.199T>A
NM_024529.4:c.1487T>A , LRG_507t1:c.1487T>A	NP_078805.3:p.Val496Glu
NM_024529.5:c.1487T>A MANE Select	NP_078805.3:p.Val496Glu