Canonical Allele Identifier: CA383982105
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507022T>C , CM000674.2:g.14507022T>C GRCh38
NC_000012.11:g.14659956T>C , CM000674.1:g.14659956T>C GRCh37
NC_000012.10:g.14551223T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1283A>G MANE Select ENSP00000240617.5:p.Tyr428Cys
ENST00000240617.9:c.1283A>G ENSP00000240617.5:p.Tyr428Cys
NM_024829.5:c.1283A>G NP_079105.4:p.Tyr428Cys
NM_024829.6:c.1283A>G MANE Select NP_079105.4:p.Tyr428Cys