Canonical Allele Identifier: CA1303425

Gene: CDC73

Linked Data

• dbSNP Id: rs772529728
• ExAC: 1:193111094 A / G
• gnomAD v2: 1-193111094-A-G
• gnomAD v4: 1-193141964-A-G
• MyVariant Identifiers: chr1:g.193111094A>G (hg19) ; chr1:g.193141964A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141964A>G , CM000663.2:g.193141964A>G	GRCh38
NC_000001.10:g.193111094A>G , CM000663.1:g.193111094A>G	GRCh37
NC_000001.9:g.191377717A>G	NCBI36
NG_012691.1:g.25007A>G , LRG_507:g.25007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.627A>G MANE Select	ENSP00000356405.4:p.Lys209=
ENST00000635846.1:c.627A>G	ENSP00000490035.1:p.Lys209=
ENST00000643006.1:c.627A>G	ENSP00000496633.1:p.Lys209=
ENST00000643784.1:c.*103A>G	ENSP00000494944.1:n.*103A>G
ENST00000647662.1:n.528A>G
ENST00000648071.1:c.*603A>G	ENSP00000497513.1:n.*603A>G
ENST00000649606.1:n.640A>G
ENST00000649895.1:n.845A>G
ENST00000650197.1:c.627A>G	ENSP00000496929.1:p.Lys209=
ENST00000367435.3:c.627A>G	ENSP00000356405.3:p.Lys209=
NM_024529.4:c.627A>G , LRG_507t1:c.627A>G	NP_078805.3:p.Lys209=
XM_006711537.2:c.627A>G	XP_006711600.1:p.Lys209=
XM_006711537.4:c.627A>G	XP_006711600.1:p.Lys209=
NM_024529.5:c.627A>G MANE Select	NP_078805.3:p.Lys209=