Canonical Allele Identifier: CA2617768399
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507266-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507266C>T , CM000674.2:g.14507266C>T GRCh38
NC_000012.11:g.14660200C>T , CM000674.1:g.14660200C>T GRCh37
NC_000012.10:g.14551467C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000240617.10:c.1187-148G>A MANE Select ENSP00000240617.5:n.1187-148G>A
ENST00000240617.9:c.1187-148G>A ENSP00000240617.5:n.1187-148G>A
NM_024829.5:c.1187-148G>A NP_079105.4:n.1187-148G>A
NM_024829.6:c.1187-148G>A MANE Select NP_079105.4:n.1187-148G>A
Search 100 bp 5'
Search 100 bp 3'