Canonical Allele Identifier: CA2625553063
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136425-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136425C>A , CM000676.2:g.73136425C>A GRCh38
NC_000014.8:g.73603133C>A , CM000676.1:g.73603133C>A GRCh37
NC_000014.7:g.72672886C>A NCBI36
NG_007386.2:g.4955C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700265.1:c.-127C>A ENSP00000514901.1:n.-127C>A
ENST00000557356.5:c.-159C>A ENSP00000451498.1:n.-159C>A
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