Canonical Allele Identifier: CA2617768394

Gene: PLBD1

Linked Data

• gnomAD v4: 12-14507262-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507262A>T , CM000674.2:g.14507262A>T	GRCh38
NC_000012.11:g.14660196A>T , CM000674.1:g.14660196A>T	GRCh37
NC_000012.10:g.14551463A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1187-144T>A MANE Select	ENSP00000240617.5:n.1187-144T>A
ENST00000240617.9:c.1187-144T>A	ENSP00000240617.5:n.1187-144T>A
NM_024829.5:c.1187-144T>A	NP_079105.4:n.1187-144T>A
NM_024829.6:c.1187-144T>A MANE Select	NP_079105.4:n.1187-144T>A