Canonical Allele Identifier: CA2612995252
Gene: CCDC73 HGNC NCBI
EIF3M HGNC NCBI

Linked Data

gnomAD v4: 11-32604358-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.32604358A>G , CM000673.2:g.32604358A>G GRCh38
NC_000011.9:g.32625904A>G , CM000673.1:g.32625904A>G GRCh37
NC_000011.8:g.32582480A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000335185.10:c.3031-1338T>C (CCDC73) MANE Select ENSP00000335325.5:n.3031-1338T>C
ENST00000531120.6:c.*1959A>G (EIF3M) MANE Select ENSP00000436049.1:n.*1959A>G
ENST00000335185.9:c.3031-1338T>C (CCDC73) ENSP00000335325.5:n.3031-1338T>C
ENST00000528333.1:c.138-1338T>C (CCDC73)
ENST00000531120.5:c.*1959A>G (EIF3M) ENSP00000436049.1:n.*1959A>G
NM_001008391.3:c.3031-1338T>C (CCDC73) NP_001008392.2:n.3031-1338T>C
XM_011519840.1:c.*1959A>G (EIF3M) XP_011518142.1:n.*1959A>G
XM_011520139.1:c.2773-1338T>C (CCDC73) XP_011518441.1:n.2773-1338T>C
NM_006360.6:c.*1959A>G (EIF3M) MANE Select NP_006351.2:n.*1959A>G
NM_001307929.2:c.*1959A>G (EIF3M) NP_001294858.1:n.*1959A>G
NM_001008391.4:c.3031-1338T>C (CCDC73) MANE Select NP_001008392.2:n.3031-1338T>C
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