Canonical Allele Identifier: CA2017888351
Gene: PLBD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506995A= , CM000674.2:g.14506995A= GRCh38
NC_000012.11:g.14659929A= , CM000674.1:g.14659929A= GRCh37
NC_000012.10:g.14551196A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1310T= MANE Select ENSP00000240617.5:p.Phe437=
ENST00000240617.9:c.1310T= ENSP00000240617.5:p.Phe437=
NM_024829.5:c.1310T= NP_079105.4:p.Phe437=
NM_024829.6:c.1310T= MANE Select NP_079105.4:p.Phe437=
Search 100 bp 5'
Search 100 bp 3'