Canonical Allele Identifier: CA478705004
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14506988-A-C
MyVariant Identifiers: chr12:g.14659922A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506988A>C , CM000674.2:g.14506988A>C GRCh38
NC_000012.11:g.14659922A>C , CM000674.1:g.14659922A>C GRCh37
NC_000012.10:g.14551189A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1317T>G MANE Select ENSP00000240617.5:p.Arg439=
ENST00000240617.9:c.1317T>G ENSP00000240617.5:p.Arg439=
NM_024829.5:c.1317T>G NP_079105.4:p.Arg439=
NM_024829.6:c.1317T>G MANE Select NP_079105.4:p.Arg439=
Search 100 bp 5'
Search 100 bp 3'