Canonical Allele Identifier: CA2017888381
Gene: PLBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507069C= , CM000674.2:g.14507069C= GRCh38
NC_000012.11:g.14660003C= , CM000674.1:g.14660003C= GRCh37
NC_000012.10:g.14551270C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1236G= MANE Select ENSP00000240617.5:p.Trp412=
ENST00000240617.9:c.1236G= ENSP00000240617.5:p.Trp412=
NM_024829.5:c.1236G= NP_079105.4:p.Trp412=
NM_024829.6:c.1236G= MANE Select NP_079105.4:p.Trp412=
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