Canonical Allele Identifier: CA383982237
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1945262386

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507081T>A , CM000674.2:g.14507081T>A GRCh38
NC_000012.11:g.14660015T>A , CM000674.1:g.14660015T>A GRCh37
NC_000012.10:g.14551282T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1224A>T MANE Select ENSP00000240617.5:p.Lys408Asn
ENST00000240617.9:c.1224A>T ENSP00000240617.5:p.Lys408Asn
NM_024829.5:c.1224A>T NP_079105.4:p.Lys408Asn
NM_024829.6:c.1224A>T MANE Select NP_079105.4:p.Lys408Asn