Canonical Allele Identifier: CA1303485

Gene: CDC73

Linked Data

• ClinVar Variation Id: 462770
• ClinVar RCV Id: RCV002413493 ; RCV002476135 ; RCV003441927
• dbSNP Id: rs201236330
• ExAC: 1:193119449 A / G
• gnomAD v2: 1-193119449-A-G
• gnomAD v3: 1-193150319-A-G
• gnomAD v4: 1-193150319-A-G
• MyVariant Identifiers: chr1:g.193119449A>G (hg19) ; chr1:g.193150319A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193150319A>G , CM000663.2:g.193150319A>G	GRCh38
NC_000001.10:g.193119449A>G , CM000663.1:g.193119449A>G	GRCh37
NC_000001.9:g.191386072A>G	NCBI36
NG_012691.1:g.33362A>G , LRG_507:g.33362A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367435.5:c.844A>G MANE Select	ENSP00000356405.4:p.Thr282Ala
ENST00000635846.1:c.729+8253A>G	ENSP00000490035.1:n.729+8253A>G
ENST00000643006.1:c.844A>G	ENSP00000496633.1:p.Thr282Ala
ENST00000643784.1:c.*320A>G	ENSP00000494944.1:n.*320A>G
ENST00000647662.1:n.745A>G
ENST00000648071.1:c.*820A>G	ENSP00000497513.1:n.*820A>G
ENST00000649606.1:n.857A>G
ENST00000649895.1:n.1062A>G
ENST00000650197.1:c.844A>G	ENSP00000496929.1:p.Thr282Ala
ENST00000367435.3:c.844A>G	ENSP00000356405.3:p.Thr282Ala
NM_024529.4:c.844A>G , LRG_507t1:c.844A>G	NP_078805.3:p.Thr282Ala
XM_006711537.2:c.844A>G	XP_006711600.1:p.Thr282Ala
XM_006711537.4:c.844A>G	XP_006711600.1:p.Thr282Ala
NM_024529.5:c.844A>G MANE Select	NP_078805.3:p.Thr282Ala