Canonical Allele Identifier: CA6462483
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs758313038
ExAC: 12:14659874 T / A
gnomAD v2: 12-14659874-T-A
gnomAD v4: 12-14506940-T-A
MyVariant Identifiers: chr12:g.14659874T>A (hg19) chr12:g.14506940T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506940T>A , CM000674.2:g.14506940T>A GRCh38
NC_000012.11:g.14659874T>A , CM000674.1:g.14659874T>A GRCh37
NC_000012.10:g.14551141T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1365A>T MANE Select ENSP00000240617.5:p.Arg455=
ENST00000240617.9:c.1365A>T ENSP00000240617.5:p.Arg455=
NM_024829.5:c.1365A>T NP_079105.4:p.Arg455=
NM_024829.6:c.1365A>T MANE Select NP_079105.4:p.Arg455=
Search 100 bp 5'
Search 100 bp 3'