Canonical Allele Identifier: CA2625553064
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136427-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136427A>G , CM000676.2:g.73136427A>G GRCh38
NC_000014.8:g.73603135A>G , CM000676.1:g.73603135A>G GRCh37
NC_000014.7:g.72672888A>G NCBI36
NG_007386.2:g.4957A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700265.1:c.-125A>G ENSP00000514901.1:n.-125A>G
ENST00000700266.1:c.-292A>G ENSP00000514902.1:n.-292A>G
ENST00000700267.1:c.-157A>G ENSP00000514903.1:n.-157A>G
ENST00000557356.5:c.-157A>G ENSP00000451498.1:n.-157A>G
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