Canonical Allele Identifier: CA233190429
Gene: PLBD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2602064
ClinVar RCV Id: RCV004350058
dbSNP Id: rs891870385
gnomAD v4: 12-14507038-C-T
MyVariant Identifiers: chr12:g.14659972C>T (hg19) chr12:g.14507038C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507038C>T , CM000674.2:g.14507038C>T GRCh38
NC_000012.11:g.14659972C>T , CM000674.1:g.14659972C>T GRCh37
NC_000012.10:g.14551239C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1267G>A MANE Select ENSP00000240617.5:p.Gly423Ser
ENST00000240617.9:c.1267G>A ENSP00000240617.5:p.Gly423Ser
NM_024829.5:c.1267G>A NP_079105.4:p.Gly423Ser
NM_024829.6:c.1267G>A MANE Select NP_079105.4:p.Gly423Ser
Search 100 bp 5'
Search 100 bp 3'