Canonical Allele Identifier: CA011043
Gene: MYBPC3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8614
ClinVar RCV Id: RCV000009145
dbSNP Id: rs121909375

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47351356T>C , CM000673.2:g.47351356T>C GRCh38
NC_000011.9:g.47372907T>C , CM000673.1:g.47372907T>C GRCh37
NC_000011.8:g.47329483T>C NCBI36
NG_007667.1:g.6347A>G , LRG_386:g.6347A>G

Transcript Alleles

HGVS Amino-acid change
NM_000256.3:c.175A>G , LRG_386t1:c.175A>G NP_000247.2:p.Thr59Ala
XM_011520117.1:c.175A>G XP_011518419.1:p.Thr59Ala
XM_011520118.1:c.175A>G XP_011518420.1:p.Thr59Ala
ENST00000256993.8:c.175A>G ENSP00000256993.5:p.Thr59Ala
ENST00000399249.6:c.175A>G ENSP00000382193.2:p.Thr59Ala
ENST00000544791.1:c.175A>G ENSP00000444259.1:p.Thr59Ala
ENST00000545968.5:c.175A>G ENSP00000442795.1:p.Thr59Ala