Canonical Allele Identifier: CA2625553085
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136434-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136434G>A , CM000676.2:g.73136434G>A GRCh38
NC_000014.8:g.73603142G>A , CM000676.1:g.73603142G>A GRCh37
NC_000014.7:g.72672895G>A NCBI36
NG_007386.2:g.4964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700265.1:c.-118G>A ENSP00000514901.1:n.-118G>A
ENST00000700266.1:c.-285G>A ENSP00000514902.1:n.-285G>A
ENST00000700267.1:c.-150G>A ENSP00000514903.1:n.-150G>A
ENST00000557356.5:c.-150G>A ENSP00000451498.1:n.-150G>A
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