Canonical Allele Identifier: CA2645094001
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097491-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097491C>T , CM000663.2:g.40097491C>T GRCh38
NC_000001.10:g.40563163C>T , CM000663.1:g.40563163C>T GRCh37
NC_000001.9:g.40335750C>T NCBI36
NG_009192.1:g.4980G>A , LRG_690:g.4980G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-253G>A ENSP00000394863.3:n.-253G>A
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