Canonical Allele Identifier: CA2617768326
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507167-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507167A>T , CM000674.2:g.14507167A>T GRCh38
NC_000012.11:g.14660101A>T , CM000674.1:g.14660101A>T GRCh37
NC_000012.10:g.14551368A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-49T>A MANE Select ENSP00000240617.5:n.1187-49T>A
ENST00000240617.9:c.1187-49T>A ENSP00000240617.5:n.1187-49T>A
NM_024829.5:c.1187-49T>A NP_079105.4:n.1187-49T>A
NM_024829.6:c.1187-49T>A MANE Select NP_079105.4:n.1187-49T>A
Search 100 bp 5'
Search 100 bp 3'