Canonical Allele Identifier: CA383982062
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507000T>G , CM000674.2:g.14507000T>G GRCh38
NC_000012.11:g.14659934T>G , CM000674.1:g.14659934T>G GRCh37
NC_000012.10:g.14551201T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1305A>C MANE Select ENSP00000240617.5:p.Lys435Asn
ENST00000240617.9:c.1305A>C ENSP00000240617.5:p.Lys435Asn
NM_024829.5:c.1305A>C NP_079105.4:p.Lys435Asn
NM_024829.6:c.1305A>C MANE Select NP_079105.4:p.Lys435Asn