Canonical Allele Identifier: CA2613405641
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47343284-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343284T>A , CM000673.2:g.47343284T>A GRCh38
NC_000011.9:g.47364835T>A , CM000673.1:g.47364835T>A GRCh37
NC_000011.8:g.47321411T>A NCBI36
NG_007667.1:g.14419A>T , LRG_386:g.14419A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1224-22A>T MANE Select ENSP00000442795.1:n.1224-22A>T
ENST00000256993.8:c.1224-136A>T ENSP00000256993.5:n.1224-136A>T
ENST00000399249.6:c.1224-22A>T ENSP00000382193.2:n.1224-22A>T
ENST00000544791.1:c.1224-22A>T ENSP00000444259.1:n.1224-22A>T
ENST00000545968.5:c.1224-22A>T ENSP00000442795.1:n.1224-22A>T
NM_000256.3:c.1224-22A>T , LRG_386t1:c.1224-22A>T MANE Select NP_000247.2:n.1224-22A>T
XM_011520117.1:c.1206-22A>T XP_011518419.1:n.1206-22A>T
XM_011520118.1:c.1224-22A>T XP_011518420.1:n.1224-22A>T
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