Canonical Allele Identifier: CA2575086457
Gene: PLBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506866T>G , CM000674.2:g.14506866T>G GRCh38
NC_000012.11:g.14659800T>G , CM000674.1:g.14659800T>G GRCh37
NC_000012.10:g.14551067T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+67A>C MANE Select ENSP00000240617.5:n.1372+67A>C
ENST00000240617.9:c.1372+67A>C ENSP00000240617.5:n.1372+67A>C
NM_024829.5:c.1372+67A>C NP_079105.4:n.1372+67A>C
NM_024829.6:c.1372+67A>C MANE Select NP_079105.4:n.1372+67A>C
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