Canonical Allele Identifier: CA2612995253

Gene: CCDC73 EIF3M

Linked Data

• gnomAD v4: 11-32604359-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32604359T>C , CM000673.2:g.32604359T>C	GRCh38
NC_000011.9:g.32625905T>C , CM000673.1:g.32625905T>C	GRCh37
NC_000011.8:g.32582481T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335185.10:c.3031-1339A>G (CCDC73) MANE Select	ENSP00000335325.5:n.3031-1339A>G
ENST00000531120.6:c.*1960T>C (EIF3M) MANE Select	ENSP00000436049.1:n.*1960T>C
ENST00000335185.9:c.3031-1339A>G (CCDC73)	ENSP00000335325.5:n.3031-1339A>G
ENST00000528333.1:c.138-1339A>G (CCDC73)
ENST00000531120.5:c.*1960T>C (EIF3M)	ENSP00000436049.1:n.*1960T>C
NM_001008391.3:c.3031-1339A>G (CCDC73)	NP_001008392.2:n.3031-1339A>G
XM_011519840.1:c.*1960T>C (EIF3M)	XP_011518142.1:n.*1960T>C
XM_011520139.1:c.2773-1339A>G (CCDC73)	XP_011518441.1:n.2773-1339A>G
NM_006360.6:c.*1960T>C (EIF3M) MANE Select	NP_006351.2:n.*1960T>C
NM_001307929.2:c.*1960T>C (EIF3M)	NP_001294858.1:n.*1960T>C
NM_001008391.4:c.3031-1339A>G (CCDC73) MANE Select	NP_001008392.2:n.3031-1339A>G