Canonical Allele Identifier: CA478705027
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659946A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507012A>T , CM000674.2:g.14507012A>T GRCh38
NC_000012.11:g.14659946A>T , CM000674.1:g.14659946A>T GRCh37
NC_000012.10:g.14551213A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1293T>A MANE Select ENSP00000240617.5:p.Ala431=
ENST00000240617.9:c.1293T>A ENSP00000240617.5:p.Ala431=
NM_024829.5:c.1293T>A NP_079105.4:p.Ala431=
NM_024829.6:c.1293T>A MANE Select NP_079105.4:p.Ala431=