Canonical Allele Identifier: CA344078243

Gene: CDC73

Linked Data

• ClinVar Variation Id: 531646
• ClinVar RCV Id: RCV000638118 ; RCV001011271 ; RCV003459526
• dbSNP Id: rs1199579887
• gnomAD v4: 1-193236323-C-T
• MyVariant Identifiers: chr1:g.193205453C>T (hg19) ; chr1:g.193236323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193236323C>T , CM000663.2:g.193236323C>T	GRCh38
NC_000001.10:g.193205453C>T , CM000663.1:g.193205453C>T	GRCh37
NC_000001.9:g.191472076C>T	NCBI36
NG_012691.1:g.119366C>T , LRG_507:g.119366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.1384C>T MANE Select	ENSP00000356405.4:p.Pro462Ser
ENST00000635846.1:c.1141C>T	ENSP00000490035.1:p.Pro381Ser
ENST00000643006.1:c.*294C>T	ENSP00000496633.1:n.*294C>T
ENST00000648071.1:c.*1360C>T	ENSP00000497513.1:n.*1360C>T
ENST00000649613.1:n.634C>T
ENST00000649895.1:n.1602C>T
ENST00000650197.1:c.1384C>T	ENSP00000496929.1:p.Pro462Ser
ENST00000367435.3:c.1384C>T	ENSP00000356405.3:p.Pro462Ser
ENST00000477868.1:n.129+3169C>T
NM_024529.4:c.1384C>T , LRG_507t1:c.1384C>T	NP_078805.3:p.Pro462Ser
NM_024529.5:c.1384C>T MANE Select	NP_078805.3:p.Pro462Ser