Canonical Allele Identifier: CA2791331347
Gene: MYBPC3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351039A>T , CM000673.2:g.47351039A>T GRCh38
NC_000011.9:g.47372590A>T , CM000673.1:g.47372590A>T GRCh37
NC_000011.8:g.47329166A>T NCBI36
NG_007667.1:g.6664T>A , LRG_386:g.6664T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.292+200T>A MANE Select ENSP00000442795.1:n.292+200T>A
ENST00000256993.8:c.292+200T>A ENSP00000256993.5:n.292+200T>A
ENST00000399249.6:c.292+200T>A ENSP00000382193.2:n.292+200T>A
ENST00000544791.1:c.292+200T>A ENSP00000444259.1:n.292+200T>A
ENST00000545968.5:c.292+200T>A ENSP00000442795.1:n.292+200T>A
NM_000256.3:c.292+200T>A , LRG_386t1:c.292+200T>A MANE Select NP_000247.2:n.292+200T>A
XM_011520117.1:c.292+200T>A XP_011518419.1:n.292+200T>A
XM_011520118.1:c.292+200T>A XP_011518420.1:n.292+200T>A
Search 100 bp 5'
Search 100 bp 3'