Canonical Allele Identifier: CA2645094000
Gene: PPT1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-253G>T ENSP00000394863.3:n.-253G>T
Search 100 bp 5'
Search 100 bp 3'