Canonical Allele Identifier: CA383982017
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs774741858

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506978T>C , CM000674.2:g.14506978T>C GRCh38
NC_000012.11:g.14659912T>C , CM000674.1:g.14659912T>C GRCh37
NC_000012.10:g.14551179T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1327A>G MANE Select ENSP00000240617.5:p.Lys443Glu
ENST00000240617.9:c.1327A>G ENSP00000240617.5:p.Lys443Glu
NM_024829.5:c.1327A>G NP_079105.4:p.Lys443Glu
NM_024829.6:c.1327A>G MANE Select NP_079105.4:p.Lys443Glu