Canonical Allele Identifier: CA478705108
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14660006G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507072G>A , CM000674.2:g.14507072G>A GRCh38
NC_000012.11:g.14660006G>A , CM000674.1:g.14660006G>A GRCh37
NC_000012.10:g.14551273G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1233C>T MANE Select ENSP00000240617.5:p.Asn411=
ENST00000240617.9:c.1233C>T ENSP00000240617.5:p.Asn411=
NM_024829.5:c.1233C>T NP_079105.4:p.Asn411=
NM_024829.6:c.1233C>T MANE Select NP_079105.4:p.Asn411=