Canonical Allele Identifier: CA343972780

Gene: CDC73

Linked Data

• ClinVar Variation Id: 1691936
• ClinVar RCV Id: RCV002256988 ; RCV003607431
• dbSNP Id: rs2103111611
• MyVariant Identifiers: chr1:g.193091359A>T (hg19) ; chr1:g.193122229A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193122229A>T , CM000663.2:g.193122229A>T	GRCh38
NC_000001.10:g.193091359A>T , CM000663.1:g.193091359A>T	GRCh37
NC_000001.9:g.191357982A>T	NCBI36
NG_012691.1:g.5272A>T , LRG_507:g.5272A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.29A>T MANE Select	ENSP00000356405.4:p.Gln10Leu
ENST00000635846.1:c.29A>T	ENSP00000490035.1:p.Gln10Leu
ENST00000643006.1:c.29A>T	ENSP00000496633.1:p.Gln10Leu
ENST00000643784.1:c.29A>T	ENSP00000494944.1:p.Gln10Leu
ENST00000648071.1:c.29A>T	ENSP00000497513.1:p.Gln10Leu
ENST00000649606.1:n.42A>T
ENST00000649895.1:n.247A>T
ENST00000650197.1:c.29A>T	ENSP00000496929.1:p.Gln10Leu
ENST00000367435.3:c.29A>T	ENSP00000356405.3:p.Gln10Leu
NM_024529.4:c.29A>T , LRG_507t1:c.29A>T	NP_078805.3:p.Gln10Leu
XM_006711537.2:c.29A>T	XP_006711600.1:p.Gln10Leu
XM_006711537.4:c.29A>T	XP_006711600.1:p.Gln10Leu
XR_001738350.1:n.1428T>A
NM_024529.5:c.29A>T MANE Select	NP_078805.3:p.Gln10Leu