Canonical Allele Identifier: CA1969331959
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1182044634
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47338354T>A , CM000673.2:g.47338354T>A GRCh38
NC_000011.9:g.47359905T>A , CM000673.1:g.47359905T>A GRCh37
NC_000011.8:g.47316481T>A NCBI36
NG_007667.1:g.19349A>T , LRG_386:g.19349A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2308+166A>T MANE Select ENSP00000442795.1:n.2308+166A>T
ENST00000256993.8:c.2308+166A>T ENSP00000256993.5:n.2308+166A>T
ENST00000399249.6:c.2308+166A>T ENSP00000382193.2:n.2308+166A>T
ENST00000544791.1:c.2308+166A>T ENSP00000444259.1:n.2308+166A>T
ENST00000545968.5:c.2308+166A>T ENSP00000442795.1:n.2308+166A>T
NM_000256.3:c.2308+166A>T , LRG_386t1:c.2308+166A>T MANE Select NP_000247.2:n.2308+166A>T
XM_011520117.1:c.2290+166A>T XP_011518419.1:n.2290+166A>T
XM_011520118.1:c.2227+166A>T XP_011518420.1:n.2227+166A>T
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