Canonical Allele Identifier: CA344076175

Gene: CDC73

Linked Data

• gnomAD v4: 1-193203844-C-G
• MyVariant Identifiers: chr1:g.193172974C>G (hg19) ; chr1:g.193203844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193203844C>G , CM000663.2:g.193203844C>G	GRCh38
NC_000001.10:g.193172974C>G , CM000663.1:g.193172974C>G	GRCh37
NC_000001.9:g.191439597C>G	NCBI36
NG_012691.1:g.86887C>G , LRG_507:g.86887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1022C>G MANE Select	ENSP00000356405.4:p.Pro341Arg
ENST00000635846.1:c.779C>G	ENSP00000490035.1:p.Pro260Arg
ENST00000643006.1:c.1090C>G	ENSP00000496633.1:p.Gln364Glu
ENST00000648071.1:c.*998C>G	ENSP00000497513.1:n.*998C>G
ENST00000649613.1:n.272C>G
ENST00000649895.1:n.1240C>G
ENST00000650197.1:c.1022C>G	ENSP00000496929.1:p.Pro341Arg
ENST00000367435.3:c.1022C>G	ENSP00000356405.3:p.Pro341Arg
NM_024529.4:c.1022C>G , LRG_507t1:c.1022C>G	NP_078805.3:p.Pro341Arg
NM_024529.5:c.1022C>G MANE Select	NP_078805.3:p.Pro341Arg