Canonical Allele Identifier: CA478704986
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659895T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506961T>A , CM000674.2:g.14506961T>A GRCh38
NC_000012.11:g.14659895T>A , CM000674.1:g.14659895T>A GRCh37
NC_000012.10:g.14551162T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1344A>T MANE Select ENSP00000240617.5:p.Ala448=
ENST00000240617.9:c.1344A>T ENSP00000240617.5:p.Ala448=
NM_024829.5:c.1344A>T NP_079105.4:p.Ala448=
NM_024829.6:c.1344A>T MANE Select NP_079105.4:p.Ala448=
Search 100 bp 5'
Search 100 bp 3'