Canonical Allele Identifier: CA343962798

Gene: CDC73

Linked Data

• gnomAD v4: 1-193142038-G-T
• MyVariant Identifiers: chr1:g.193111168G>T (hg19) ; chr1:g.193142038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142038G>T , CM000663.2:g.193142038G>T	GRCh38
NC_000001.10:g.193111168G>T , CM000663.1:g.193111168G>T	GRCh37
NC_000001.9:g.191377791G>T	NCBI36
NG_012691.1:g.25081G>T , LRG_507:g.25081G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.701G>T MANE Select	ENSP00000356405.4:p.Arg234Leu
ENST00000635846.1:c.701G>T	ENSP00000490035.1:p.Arg234Leu
ENST00000643006.1:c.701G>T	ENSP00000496633.1:p.Arg234Leu
ENST00000643784.1:c.*177G>T	ENSP00000494944.1:n.*177G>T
ENST00000647662.1:n.602G>T
ENST00000648071.1:c.*677G>T	ENSP00000497513.1:n.*677G>T
ENST00000649606.1:n.714G>T
ENST00000649895.1:n.919G>T
ENST00000650197.1:c.701G>T	ENSP00000496929.1:p.Arg234Leu
ENST00000367435.3:c.701G>T	ENSP00000356405.3:p.Arg234Leu
NM_024529.4:c.701G>T , LRG_507t1:c.701G>T	NP_078805.3:p.Arg234Leu
XM_006711537.2:c.701G>T	XP_006711600.1:p.Arg234Leu
XM_006711537.4:c.701G>T	XP_006711600.1:p.Arg234Leu
NM_024529.5:c.701G>T MANE Select	NP_078805.3:p.Arg234Leu