Canonical Allele Identifier: CA343962641

Gene: CDC73

Linked Data

• ClinVar Variation Id: 3227880
• ClinVar RCV Id: RCV004517629
• gnomAD v4: 1-193141977-G-T
• MyVariant Identifiers: chr1:g.193111107G>T (hg19) ; chr1:g.193141977G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193141977G>T , CM000663.2:g.193141977G>T	GRCh38
NC_000001.10:g.193111107G>T , CM000663.1:g.193111107G>T	GRCh37
NC_000001.9:g.191377730G>T	NCBI36
NG_012691.1:g.25020G>T , LRG_507:g.25020G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.640G>T MANE Select	ENSP00000356405.4:p.Val214Leu
ENST00000635846.1:c.640G>T	ENSP00000490035.1:p.Val214Leu
ENST00000643006.1:c.640G>T	ENSP00000496633.1:p.Val214Leu
ENST00000643784.1:c.*116G>T	ENSP00000494944.1:n.*116G>T
ENST00000647662.1:n.541G>T
ENST00000648071.1:c.*616G>T	ENSP00000497513.1:n.*616G>T
ENST00000649606.1:n.653G>T
ENST00000649895.1:n.858G>T
ENST00000650197.1:c.640G>T	ENSP00000496929.1:p.Val214Leu
ENST00000367435.3:c.640G>T	ENSP00000356405.3:p.Val214Leu
NM_024529.4:c.640G>T , LRG_507t1:c.640G>T	NP_078805.3:p.Val214Leu
XM_006711537.2:c.640G>T	XP_006711600.1:p.Val214Leu
XM_006711537.4:c.640G>T	XP_006711600.1:p.Val214Leu
NM_024529.5:c.640G>T MANE Select	NP_078805.3:p.Val214Leu