Canonical Allele Identifier: CA603609419
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1284020978
gnomAD v2: 12-14659818-G-A
gnomAD v4: 12-14506884-G-A
MyVariant Identifiers: chr12:g.14659818G>A (hg19) chr12:g.14506884G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506884G>A , CM000674.2:g.14506884G>A GRCh38
NC_000012.11:g.14659818G>A , CM000674.1:g.14659818G>A GRCh37
NC_000012.10:g.14551085G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+49C>T MANE Select ENSP00000240617.5:n.1372+49C>T
ENST00000240617.9:c.1372+49C>T ENSP00000240617.5:n.1372+49C>T
NM_024829.5:c.1372+49C>T NP_079105.4:n.1372+49C>T
NM_024829.6:c.1372+49C>T MANE Select NP_079105.4:n.1372+49C>T
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