Canonical Allele Identifier: CA383982272
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507095G>A , CM000674.2:g.14507095G>A GRCh38
NC_000012.11:g.14660029G>A , CM000674.1:g.14660029G>A GRCh37
NC_000012.10:g.14551296G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1210C>T MANE Select ENSP00000240617.5:p.Pro404Ser
ENST00000240617.9:c.1210C>T ENSP00000240617.5:p.Pro404Ser
NM_024829.5:c.1210C>T NP_079105.4:p.Pro404Ser
NM_024829.6:c.1210C>T MANE Select NP_079105.4:p.Pro404Ser