Canonical Allele Identifier: CA2839002205
Gene: PLBD1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507174A>C , CM000674.2:g.14507174A>C GRCh38
NC_000012.11:g.14660108A>C , CM000674.1:g.14660108A>C GRCh37
NC_000012.10:g.14551375A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-56T>G MANE Select ENSP00000240617.5:n.1187-56T>G
ENST00000240617.9:c.1187-56T>G ENSP00000240617.5:n.1187-56T>G
NM_024829.5:c.1187-56T>G NP_079105.4:n.1187-56T>G
NM_024829.6:c.1187-56T>G MANE Select NP_079105.4:n.1187-56T>G
Search 100 bp 5'
Search 100 bp 3'