Canonical Allele Identifier: CA2017888339
Gene: PLBD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506977T= , CM000674.2:g.14506977T= GRCh38
NC_000012.11:g.14659911T= , CM000674.1:g.14659911T= GRCh37
NC_000012.10:g.14551178T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1328A= MANE Select ENSP00000240617.5:p.Lys443=
ENST00000240617.9:c.1328A= ENSP00000240617.5:p.Lys443=
NM_024829.5:c.1328A= NP_079105.4:p.Lys443=
NM_024829.6:c.1328A= MANE Select NP_079105.4:p.Lys443=
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