Canonical Allele Identifier: CA383981975
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659893G>A (hg19) chr12:g.14506959G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506959G>A , CM000674.2:g.14506959G>A GRCh38
NC_000012.11:g.14659893G>A , CM000674.1:g.14659893G>A GRCh37
NC_000012.10:g.14551160G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1346C>T MANE Select ENSP00000240617.5:p.Ser449Phe
ENST00000240617.9:c.1346C>T ENSP00000240617.5:p.Ser449Phe
NM_024829.5:c.1346C>T NP_079105.4:p.Ser449Phe
NM_024829.6:c.1346C>T MANE Select NP_079105.4:p.Ser449Phe
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