Canonical Allele Identifier: CA2017888310
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506923T= , CM000674.2:g.14506923T= GRCh38
NC_000012.11:g.14659857T= , CM000674.1:g.14659857T= GRCh37
NC_000012.10:g.14551124T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+10A= MANE Select ENSP00000240617.5:n.1372+10A=
ENST00000240617.9:c.1372+10A= ENSP00000240617.5:n.1372+10A=
NM_024829.5:c.1372+10A= NP_079105.4:n.1372+10A=
NM_024829.6:c.1372+10A= MANE Select NP_079105.4:n.1372+10A=