Canonical Allele Identifier: CA1303482

Gene: CDC73

Linked Data

• ClinVar Variation Id: 241498
• ClinVar RCV Id: RCV000232164 ; RCV000267580 ; RCV000303106 ; RCV002444923 ; RCV002494661 ; RCV004532962
• dbSNP Id: rs10921320
• ExAC: 1:193119445 G / A
• gnomAD v2: 1-193119445-G-A
• gnomAD v3: 1-193150315-G-A
• gnomAD v4: 1-193150315-G-A
• MyVariant Identifiers: chr1:g.193119445G>A (hg19) ; chr1:g.193150315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193150315G>A , CM000663.2:g.193150315G>A	GRCh38
NC_000001.10:g.193119445G>A , CM000663.1:g.193119445G>A	GRCh37
NC_000001.9:g.191386068G>A	NCBI36
NG_012691.1:g.33358G>A , LRG_507:g.33358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.840G>A MANE Select	ENSP00000356405.4:p.Leu280=
ENST00000635846.1:c.729+8249G>A	ENSP00000490035.1:n.729+8249G>A
ENST00000643006.1:c.840G>A	ENSP00000496633.1:p.Leu280=
ENST00000643784.1:c.*316G>A	ENSP00000494944.1:n.*316G>A
ENST00000647662.1:n.741G>A
ENST00000648071.1:c.*816G>A	ENSP00000497513.1:n.*816G>A
ENST00000649606.1:n.853G>A
ENST00000649895.1:n.1058G>A
ENST00000650197.1:c.840G>A	ENSP00000496929.1:p.Leu280=
ENST00000367435.3:c.840G>A	ENSP00000356405.3:p.Leu280=
NM_024529.4:c.840G>A , LRG_507t1:c.840G>A	NP_078805.3:p.Leu280=
XM_006711537.2:c.840G>A	XP_006711600.1:p.Leu280=
XM_006711537.4:c.840G>A	XP_006711600.1:p.Leu280=
NM_024529.5:c.840G>A MANE Select	NP_078805.3:p.Leu280=