Canonical Allele Identifier: CA383982080
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507011-G-A
MyVariant Identifiers: chr12:g.14659945G>A (hg19) chr12:g.14507011G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507011G>A , CM000674.2:g.14507011G>A GRCh38
NC_000012.11:g.14659945G>A , CM000674.1:g.14659945G>A GRCh37
NC_000012.10:g.14551212G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1294C>T MANE Select ENSP00000240617.5:p.Pro432Ser
ENST00000240617.9:c.1294C>T ENSP00000240617.5:p.Pro432Ser
NM_024829.5:c.1294C>T NP_079105.4:p.Pro432Ser
NM_024829.6:c.1294C>T MANE Select NP_079105.4:p.Pro432Ser
Search 100 bp 5'
Search 100 bp 3'