Canonical Allele Identifier: CA6462490
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs143522122
ExAC: 12:14659899 G / A
gnomAD v2: 12-14659899-G-A
gnomAD v3: 12-14506965-G-A
gnomAD v4: 12-14506965-G-A
MyVariant Identifiers: chr12:g.14659899G>A (hg19) chr12:g.14506965G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506965G>A , CM000674.2:g.14506965G>A GRCh38
NC_000012.11:g.14659899G>A , CM000674.1:g.14659899G>A GRCh37
NC_000012.10:g.14551166G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1340C>T MANE Select ENSP00000240617.5:p.Thr447Met
ENST00000240617.9:c.1340C>T ENSP00000240617.5:p.Thr447Met
NM_024829.5:c.1340C>T NP_079105.4:p.Thr447Met
NM_024829.6:c.1340C>T MANE Select NP_079105.4:p.Thr447Met
Search 100 bp 5'
Search 100 bp 3'