Canonical Allele Identifier: CA383982142
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507038-C-A
MyVariant Identifiers: chr12:g.14659972C>A (hg19) chr12:g.14507038C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1267G>T MANE Select ENSP00000240617.5:p.Gly423Cys
ENST00000240617.9:c.1267G>T ENSP00000240617.5:p.Gly423Cys
NM_024829.5:c.1267G>T NP_079105.4:p.Gly423Cys
NM_024829.6:c.1267G>T MANE Select NP_079105.4:p.Gly423Cys
Search 100 bp 5'
Search 100 bp 3'