Canonical Allele Identifier: CA2017888283
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506872C= , CM000674.2:g.14506872C= GRCh38
NC_000012.11:g.14659806C= , CM000674.1:g.14659806C= GRCh37
NC_000012.10:g.14551073C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+61G= MANE Select ENSP00000240617.5:n.1372+61G=
ENST00000240617.9:c.1372+61G= ENSP00000240617.5:n.1372+61G=
NM_024829.5:c.1372+61G= NP_079105.4:n.1372+61G=
NM_024829.6:c.1372+61G= MANE Select NP_079105.4:n.1372+61G=