Canonical Allele Identifier: CA1303440

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1565496
• ClinVar RCV Id: RCV002205345
• dbSNP Id: rs750619160
• ExAC: 1:193111216 C / T
• gnomAD v2: 1-193111216-C-T
• gnomAD v3: 1-193142086-C-T
• gnomAD v4: 1-193142086-C-T
• MyVariant Identifiers: chr1:g.193111216C>T (hg19) ; chr1:g.193142086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142086C>T , CM000663.2:g.193142086C>T	GRCh38
NC_000001.10:g.193111216C>T , CM000663.1:g.193111216C>T	GRCh37
NC_000001.9:g.191377839C>T	NCBI36
NG_012691.1:g.25129C>T , LRG_507:g.25129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.729+20C>T MANE Select	ENSP00000356405.4:n.729+20C>T
ENST00000635846.1:c.729+20C>T	ENSP00000490035.1:n.729+20C>T
ENST00000643006.1:c.729+20C>T	ENSP00000496633.1:n.729+20C>T
ENST00000643784.1:c.*205+20C>T	ENSP00000494944.1:n.*205+20C>T
ENST00000647662.1:n.630+20C>T
ENST00000648071.1:c.*705+20C>T	ENSP00000497513.1:n.*705+20C>T
ENST00000649606.1:n.742+20C>T
ENST00000649895.1:n.947+20C>T
ENST00000650197.1:c.729+20C>T	ENSP00000496929.1:n.729+20C>T
ENST00000367435.3:c.729+20C>T	ENSP00000356405.3:n.729+20C>T
NM_024529.4:c.729+20C>T , LRG_507t1:c.729+20C>T	NP_078805.3:n.729+20C>T
XM_006711537.2:c.729+20C>T	XP_006711600.1:n.729+20C>T
XM_006711537.4:c.729+20C>T	XP_006711600.1:n.729+20C>T
NM_024529.5:c.729+20C>T MANE Select	NP_078805.3:n.729+20C>T