Canonical Allele Identifier: CA2645093997
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097480-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097480T>A , CM000663.2:g.40097480T>A GRCh38
NC_000001.10:g.40563152T>A , CM000663.1:g.40563152T>A GRCh37
NC_000001.9:g.40335739T>A NCBI36
NG_009192.1:g.4991A>T , LRG_690:g.4991A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-242A>T ENSP00000394863.3:n.-242A>T