Canonical Allele Identifier: CA6462489
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs769990236
ExAC: 12:14659898 C / T
gnomAD v2: 12-14659898-C-T
gnomAD v3: 12-14506964-C-T
gnomAD v4: 12-14506964-C-T
MyVariant Identifiers: chr12:g.14659898C>T (hg19) chr12:g.14506964C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506964C>T , CM000674.2:g.14506964C>T GRCh38
NC_000012.11:g.14659898C>T , CM000674.1:g.14659898C>T GRCh37
NC_000012.10:g.14551165C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1341G>A MANE Select ENSP00000240617.5:p.Thr447=
ENST00000240617.9:c.1341G>A ENSP00000240617.5:p.Thr447=
NM_024829.5:c.1341G>A NP_079105.4:p.Thr447=
NM_024829.6:c.1341G>A MANE Select NP_079105.4:p.Thr447=
Search 100 bp 5'
Search 100 bp 3'