Canonical Allele Identifier: CA2645093993
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097475-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097475T>C , CM000663.2:g.40097475T>C GRCh38
NC_000001.10:g.40563147T>C , CM000663.1:g.40563147T>C GRCh37
NC_000001.9:g.40335734T>C NCBI36
NG_009192.1:g.4996A>G , LRG_690:g.4996A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-237A>G ENSP00000394863.3:n.-237A>G