Canonical Allele Identifier: CA2017888324
Gene: PLBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506946G= , CM000674.2:g.14506946G= GRCh38
NC_000012.11:g.14659880G= , CM000674.1:g.14659880G= GRCh37
NC_000012.10:g.14551147G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1359C= MANE Select ENSP00000240617.5:p.Ile453=
ENST00000240617.9:c.1359C= ENSP00000240617.5:p.Ile453=
NM_024829.5:c.1359C= NP_079105.4:p.Ile453=
NM_024829.6:c.1359C= MANE Select NP_079105.4:p.Ile453=
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