Canonical Allele Identifier: CA383982057
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506998A>C , CM000674.2:g.14506998A>C GRCh38
NC_000012.11:g.14659932A>C , CM000674.1:g.14659932A>C GRCh37
NC_000012.10:g.14551199A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1307T>G MANE Select ENSP00000240617.5:p.Ile436Ser
ENST00000240617.9:c.1307T>G ENSP00000240617.5:p.Ile436Ser
NM_024829.5:c.1307T>G NP_079105.4:p.Ile436Ser
NM_024829.6:c.1307T>G MANE Select NP_079105.4:p.Ile436Ser