Canonical Allele Identifier: CA383982257
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14660023G>A (hg19) chr12:g.14507089G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507089G>A , CM000674.2:g.14507089G>A GRCh38
NC_000012.11:g.14660023G>A , CM000674.1:g.14660023G>A GRCh37
NC_000012.10:g.14551290G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1216C>T MANE Select ENSP00000240617.5:p.His406Tyr
ENST00000240617.9:c.1216C>T ENSP00000240617.5:p.His406Tyr
NM_024829.5:c.1216C>T NP_079105.4:p.His406Tyr
NM_024829.6:c.1216C>T MANE Select NP_079105.4:p.His406Tyr
Search 100 bp 5'
Search 100 bp 3'