Canonical Allele Identifier: CA2625553059
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136424-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136424G>A , CM000676.2:g.73136424G>A GRCh38
NC_000014.8:g.73603132G>A , CM000676.1:g.73603132G>A GRCh37
NC_000014.7:g.72672885G>A NCBI36
NG_007386.2:g.4954G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700265.1:c.-128G>A ENSP00000514901.1:n.-128G>A
ENST00000557356.5:c.-160G>A ENSP00000451498.1:n.-160G>A
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