Canonical Allele Identifier: CA478705003
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1364892791
gnomAD v2: 12-14659919-G-A
MyVariant Identifiers: chr12:g.14659919G>A (hg19) chr12:g.14506985G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506985G>A , CM000674.2:g.14506985G>A GRCh38
NC_000012.11:g.14659919G>A , CM000674.1:g.14659919G>A GRCh37
NC_000012.10:g.14551186G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1320C>T MANE Select ENSP00000240617.5:p.Asp440=
ENST00000240617.9:c.1320C>T ENSP00000240617.5:p.Asp440=
NM_024829.5:c.1320C>T NP_079105.4:p.Asp440=
NM_024829.6:c.1320C>T MANE Select NP_079105.4:p.Asp440=
Search 100 bp 5'
Search 100 bp 3'