Canonical Allele Identifier: CA383982119
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507028T>C , CM000674.2:g.14507028T>C GRCh38
NC_000012.11:g.14659962T>C , CM000674.1:g.14659962T>C GRCh37
NC_000012.10:g.14551229T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1277A>G MANE Select ENSP00000240617.5:p.Tyr426Cys
ENST00000240617.9:c.1277A>G ENSP00000240617.5:p.Tyr426Cys
NM_024829.5:c.1277A>G NP_079105.4:p.Tyr426Cys
NM_024829.6:c.1277A>G MANE Select NP_079105.4:p.Tyr426Cys