Canonical Allele Identifier: CA383982203
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507067-C-T
MyVariant Identifiers: chr12:g.14660001C>T (hg19) chr12:g.14507067C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507067C>T , CM000674.2:g.14507067C>T GRCh38
NC_000012.11:g.14660001C>T , CM000674.1:g.14660001C>T GRCh37
NC_000012.10:g.14551268C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1238G>A MANE Select ENSP00000240617.5:p.Ser413Asn
ENST00000240617.9:c.1238G>A ENSP00000240617.5:p.Ser413Asn
NM_024829.5:c.1238G>A NP_079105.4:p.Ser413Asn
NM_024829.6:c.1238G>A MANE Select NP_079105.4:p.Ser413Asn
Search 100 bp 5'
Search 100 bp 3'