Canonical Allele Identifier: CA2613355966
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2142849698

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332370T>G , CM000673.2:g.47332370T>G GRCh38
NC_000011.9:g.47353921T>G , CM000673.1:g.47353921T>G GRCh37
NC_000011.8:g.47310497T>G NCBI36
NG_007667.1:g.25333A>C , LRG_386:g.25333A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3628-112A>C MANE Select ENSP00000442795.1:n.3628-112A>C
ENST00000256993.8:c.3628-112A>C ENSP00000256993.5:n.3628-112A>C
ENST00000399249.6:c.3628-112A>C ENSP00000382193.2:n.3628-112A>C
ENST00000545968.5:c.3628-112A>C ENSP00000442795.1:n.3628-112A>C
NM_000256.3:c.3628-112A>C , LRG_386t1:c.3628-112A>C MANE Select NP_000247.2:n.3628-112A>C
XM_011520117.1:c.3610-112A>C XP_011518419.1:n.3610-112A>C
XM_011520118.1:c.3547-112A>C XP_011518420.1:n.3547-112A>C