Canonical Allele Identifier: CA383982192
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507062A>G , CM000674.2:g.14507062A>G GRCh38
NC_000012.11:g.14659996A>G , CM000674.1:g.14659996A>G GRCh37
NC_000012.10:g.14551263A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1243T>C MANE Select ENSP00000240617.5:p.Tyr415His
ENST00000240617.9:c.1243T>C ENSP00000240617.5:p.Tyr415His
NM_024829.5:c.1243T>C NP_079105.4:p.Tyr415His
NM_024829.6:c.1243T>C MANE Select NP_079105.4:p.Tyr415His