Canonical Allele Identifier: CA2645093998
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097487-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097487A>G , CM000663.2:g.40097487A>G GRCh38
NC_000001.10:g.40563159A>G , CM000663.1:g.40563159A>G GRCh37
NC_000001.9:g.40335746A>G NCBI36
NG_009192.1:g.4984T>C , LRG_690:g.4984T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-249T>C ENSP00000394863.3:n.-249T>C