Canonical Allele Identifier: CA6462518
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs764827019

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507091A>C , CM000674.2:g.14507091A>C GRCh38
NC_000012.11:g.14660025A>C , CM000674.1:g.14660025A>C GRCh37
NC_000012.10:g.14551292A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1214T>G MANE Select ENSP00000240617.5:p.Phe405Cys
ENST00000240617.9:c.1214T>G ENSP00000240617.5:p.Phe405Cys
NM_024829.5:c.1214T>G NP_079105.4:p.Phe405Cys
NM_024829.6:c.1214T>G MANE Select NP_079105.4:p.Phe405Cys