Canonical Allele Identifier: CA2645093994
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097477-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097477A>C , CM000663.2:g.40097477A>C GRCh38
NC_000001.10:g.40563149A>C , CM000663.1:g.40563149A>C GRCh37
NC_000001.9:g.40335736A>C NCBI36
NG_009192.1:g.4994T>G , LRG_690:g.4994T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-239T>G ENSP00000394863.3:n.-239T>G