Canonical Allele Identifier: CA343962687

Gene: CDC73

Linked Data

• gnomAD v4: 1-193141988-G-C
• MyVariant Identifiers: chr1:g.193111118G>C (hg19) ; chr1:g.193141988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141988G>C , CM000663.2:g.193141988G>C	GRCh38
NC_000001.10:g.193111118G>C , CM000663.1:g.193111118G>C	GRCh37
NC_000001.9:g.191377741G>C	NCBI36
NG_012691.1:g.25031G>C , LRG_507:g.25031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.651G>C MANE Select	ENSP00000356405.4:p.Glu217Asp
ENST00000635846.1:c.651G>C	ENSP00000490035.1:p.Glu217Asp
ENST00000643006.1:c.651G>C	ENSP00000496633.1:p.Glu217Asp
ENST00000643784.1:c.*127G>C	ENSP00000494944.1:n.*127G>C
ENST00000647662.1:n.552G>C
ENST00000648071.1:c.*627G>C	ENSP00000497513.1:n.*627G>C
ENST00000649606.1:n.664G>C
ENST00000649895.1:n.869G>C
ENST00000650197.1:c.651G>C	ENSP00000496929.1:p.Glu217Asp
ENST00000367435.3:c.651G>C	ENSP00000356405.3:p.Glu217Asp
NM_024529.4:c.651G>C , LRG_507t1:c.651G>C	NP_078805.3:p.Glu217Asp
XM_006711537.2:c.651G>C	XP_006711600.1:p.Glu217Asp
XM_006711537.4:c.651G>C	XP_006711600.1:p.Glu217Asp
NM_024529.5:c.651G>C MANE Select	NP_078805.3:p.Glu217Asp