Canonical Allele Identifier: CA944992021
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1945264039
gnomAD v3: 12-14507252-T-C
gnomAD v4: 12-14507252-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507252T>C , CM000674.2:g.14507252T>C GRCh38
NC_000012.11:g.14660186T>C , CM000674.1:g.14660186T>C GRCh37
NC_000012.10:g.14551453T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-134A>G MANE Select ENSP00000240617.5:n.1187-134A>G
ENST00000240617.9:c.1187-134A>G ENSP00000240617.5:n.1187-134A>G
NM_024829.5:c.1187-134A>G NP_079105.4:n.1187-134A>G
NM_024829.6:c.1187-134A>G MANE Select NP_079105.4:n.1187-134A>G
Search 100 bp 5'
Search 100 bp 3'