Canonical Allele Identifier: CA2613402565
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47342521-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342521G>T , CM000673.2:g.47342521G>T GRCh38
NC_000011.9:g.47364072G>T , CM000673.1:g.47364072G>T GRCh37
NC_000011.8:g.47320648G>T NCBI36
NG_007667.1:g.15182C>A , LRG_386:g.15182C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.1624+57C>A MANE Select ENSP00000442795.1:n.1624+57C>A
ENST00000256993.8:c.1624+57C>A ENSP00000256993.5:n.1624+57C>A
ENST00000399249.6:c.1624+57C>A ENSP00000382193.2:n.1624+57C>A
ENST00000544791.1:c.1624+57C>A ENSP00000444259.1:n.1624+57C>A
ENST00000545968.5:c.1624+57C>A ENSP00000442795.1:n.1624+57C>A
NM_000256.3:c.1624+57C>A , LRG_386t1:c.1624+57C>A MANE Select NP_000247.2:n.1624+57C>A
XM_011520117.1:c.1606+57C>A XP_011518419.1:n.1606+57C>A
XM_011520118.1:c.1624+57C>A XP_011518420.1:n.1624+57C>A
Search 100 bp 5'
Search 100 bp 3'