Canonical Allele Identifier: CA2645093999
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097490-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097490G>T , CM000663.2:g.40097490G>T GRCh38
NC_000001.10:g.40563162G>T , CM000663.1:g.40563162G>T GRCh37
NC_000001.9:g.40335749G>T NCBI36
NG_009192.1:g.4981C>A , LRG_690:g.4981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-252C>A ENSP00000394863.3:n.-252C>A