Canonical Allele Identifier: CA974016091
Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs2089422863
gnomAD v3: 16-4951428-A-G
gnomAD v4: 16-4951428-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4951428A>G , CM000678.2:g.4951428A>G GRCh38
NC_000016.9:g.5001429A>G , CM000678.1:g.5001429A>G GRCh37
NC_000016.8:g.4941430A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000592772.1:c.-92+9136T>C ENSP00000467699.1:n.-92+9136T>C