Canonical Allele Identifier: CA383982118
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659962T>A (hg19) chr12:g.14507028T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507028T>A , CM000674.2:g.14507028T>A GRCh38
NC_000012.11:g.14659962T>A , CM000674.1:g.14659962T>A GRCh37
NC_000012.10:g.14551229T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1277A>T MANE Select ENSP00000240617.5:p.Tyr426Phe
ENST00000240617.9:c.1277A>T ENSP00000240617.5:p.Tyr426Phe
NM_024829.5:c.1277A>T NP_079105.4:p.Tyr426Phe
NM_024829.6:c.1277A>T MANE Select NP_079105.4:p.Tyr426Phe
Search 100 bp 5'
Search 100 bp 3'