Canonical Allele Identifier: CA344077656

Gene: CDC73

Linked Data

• gnomAD v4: 1-193212460-C-A
• MyVariant Identifiers: chr1:g.193181590C>A (hg19) ; chr1:g.193212460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193212460C>A , CM000663.2:g.193212460C>A	GRCh38
NC_000001.10:g.193181590C>A , CM000663.1:g.193181590C>A	GRCh37
NC_000001.9:g.191448213C>A	NCBI36
NG_012691.1:g.95503C>A , LRG_507:g.95503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1137C>A MANE Select	ENSP00000356405.4:p.Asp379Glu
ENST00000635846.1:c.894C>A	ENSP00000490035.1:p.Asp298Glu
ENST00000643006.1:c.*47C>A	ENSP00000496633.1:n.*47C>A
ENST00000648071.1:c.*1113C>A	ENSP00000497513.1:n.*1113C>A
ENST00000649613.1:n.387C>A
ENST00000649895.1:n.1355C>A
ENST00000650197.1:c.1137C>A	ENSP00000496929.1:p.Asp379Glu
ENST00000367435.3:c.1137C>A	ENSP00000356405.3:p.Asp379Glu
NM_024529.4:c.1137C>A , LRG_507t1:c.1137C>A	NP_078805.3:p.Asp379Glu
NM_024529.5:c.1137C>A MANE Select	NP_078805.3:p.Asp379Glu