Canonical Allele Identifier: CA2613355392
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47331771-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47331771A>T , CM000673.2:g.47331771A>T GRCh38
NC_000011.9:g.47353322A>T , CM000673.1:g.47353322A>T GRCh37
NC_000011.8:g.47309898A>T NCBI36
NG_007667.1:g.25932T>A , LRG_386:g.25932T>A
NG_029462.1:g.67396A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.*27-55T>A MANE Select ENSP00000442795.1:n.*27-55T>A
ENST00000256993.8:c.*27-55T>A ENSP00000256993.5:n.*27-55T>A
ENST00000399249.6:c.*27-55T>A ENSP00000382193.2:n.*27-55T>A
ENST00000545968.5:c.*27-55T>A ENSP00000442795.1:n.*27-55T>A
NM_000256.3:c.*27-55T>A , LRG_386t1:c.*27-55T>A MANE Select NP_000247.2:n.*27-55T>A
XM_011520117.1:c.*27-55T>A XP_011518419.1:n.*27-55T>A
XM_011520118.1:c.*27-55T>A XP_011518420.1:n.*27-55T>A
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