Canonical Allele Identifier: CA383982034
Gene: PLBD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2247936
ClinVar RCV Id: RCV004106622
MyVariant Identifiers: chr12:g.14659920T>C (hg19) chr12:g.14506986T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506986T>C , CM000674.2:g.14506986T>C GRCh38
NC_000012.11:g.14659920T>C , CM000674.1:g.14659920T>C GRCh37
NC_000012.10:g.14551187T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1319A>G MANE Select ENSP00000240617.5:p.Asp440Gly
ENST00000240617.9:c.1319A>G ENSP00000240617.5:p.Asp440Gly
NM_024829.5:c.1319A>G NP_079105.4:p.Asp440Gly
NM_024829.6:c.1319A>G MANE Select NP_079105.4:p.Asp440Gly
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Search 100 bp 3'