Canonical Allele Identifier: CA2590286571
Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs1254681403
gnomAD v3: 16-4951232-T-A
gnomAD v4: 16-4951232-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4951232T>A , CM000678.2:g.4951232T>A GRCh38
NC_000016.9:g.5001233T>A , CM000678.1:g.5001233T>A GRCh37
NC_000016.8:g.4941234T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000592772.1:c.-92+9332A>T ENSP00000467699.1:n.-92+9332A>T
Search 100 bp 5'
Search 100 bp 3'