Canonical Allele Identifier: CA2017888384
Gene: PLBD1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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