Canonical Allele Identifier: CA219517052

Gene: CCDC73 EIF3M

Linked Data

• dbSNP Id: rs148037438
• gnomAD v2: 11-32625910-G-A
• gnomAD v3: 11-32604364-G-A
• gnomAD v4: 11-32604364-G-A
• MyVariant Identifiers: chr11:g.32625910G>A (hg19) ; chr11:g.32604364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32604364G>A , CM000673.2:g.32604364G>A	GRCh38
NC_000011.9:g.32625910G>A , CM000673.1:g.32625910G>A	GRCh37
NC_000011.8:g.32582486G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000335185.10:c.3031-1344C>T (CCDC73) MANE Select	ENSP00000335325.5:n.3031-1344C>T
ENST00000531120.6:c.*1965G>A (EIF3M) MANE Select	ENSP00000436049.1:n.*1965G>A
ENST00000335185.9:c.3031-1344C>T (CCDC73)	ENSP00000335325.5:n.3031-1344C>T
ENST00000528333.1:c.138-1344C>T (CCDC73)
ENST00000531120.5:c.*1965G>A (EIF3M)	ENSP00000436049.1:n.*1965G>A
NM_001008391.3:c.3031-1344C>T (CCDC73)	NP_001008392.2:n.3031-1344C>T
XM_011519840.1:c.*1965G>A (EIF3M)	XP_011518142.1:n.*1965G>A
XM_011520139.1:c.2773-1344C>T (CCDC73)	XP_011518441.1:n.2773-1344C>T
NM_006360.6:c.*1965G>A (EIF3M) MANE Select	NP_006351.2:n.*1965G>A
NM_001307929.2:c.*1965G>A (EIF3M)	NP_001294858.1:n.*1965G>A
NM_001008391.4:c.3031-1344C>T (CCDC73) MANE Select	NP_001008392.2:n.3031-1344C>T