Canonical Allele Identifier: CA342364

Gene: CDC73

Linked Data

• ClinVar Variation Id: 21680
• ClinVar RCV Id: RCV000020878 ; RCV001099195 ; RCV001099099 ; RCV002466410
• dbSNP Id: rs80356643
• ExAC: 1:193091320 G / A
• gnomAD v2: 1-193091320-G-A
• gnomAD v3: 1-193122190-G-A
• gnomAD v4: 1-193122190-G-A
• MyVariant Identifiers: chr1:g.193091320G>A (hg19) ; chr1:g.193122190G>A (hg38)
• PubMed: PMID:20301744

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122190G>A , CM000663.2:g.193122190G>A	GRCh38
NC_000001.10:g.193091320G>A , CM000663.1:g.193091320G>A	GRCh37
NC_000001.9:g.191357943G>A	NCBI36
NG_012691.1:g.5233G>A , LRG_507:g.5233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.-11G>A MANE Select	ENSP00000356405.4:n.-11G>A
ENST00000635846.1:c.-11G>A	ENSP00000490035.1:n.-11G>A
ENST00000643006.1:c.-11G>A	ENSP00000496633.1:n.-11G>A
ENST00000643784.1:c.-11G>A	ENSP00000494944.1:n.-11G>A
ENST00000648071.1:c.-11G>A	ENSP00000497513.1:n.-11G>A
ENST00000649606.1:n.3G>A
ENST00000649895.1:n.208G>A
ENST00000650197.1:c.-11G>A	ENSP00000496929.1:n.-11G>A
ENST00000367435.3:c.-11G>A	ENSP00000356405.3:n.-11G>A
NM_024529.4:c.-11G>A , LRG_507t1:c.-11G>A	NP_078805.3:n.-11G>A
XM_006711537.2:c.-11G>A	XP_006711600.1:n.-11G>A
XM_006711537.4:c.-11G>A	XP_006711600.1:n.-11G>A
XR_001738350.1:n.1467C>T
NM_024529.5:c.-11G>A MANE Select	NP_078805.3:n.-11G>A