Canonical Allele Identifier: CA2625553068
Gene: PSEN1 HGNC NCBI

Linked Data

gnomAD v4: 14-73136430-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73136430G>T , CM000676.2:g.73136430G>T GRCh38
NC_000014.8:g.73603138G>T , CM000676.1:g.73603138G>T GRCh37
NC_000014.7:g.72672891G>T NCBI36
NG_007386.2:g.4960G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700265.1:c.-122G>T ENSP00000514901.1:n.-122G>T
ENST00000700266.1:c.-289G>T ENSP00000514902.1:n.-289G>T
ENST00000700267.1:c.-154G>T ENSP00000514903.1:n.-154G>T
ENST00000557356.5:c.-154G>T ENSP00000451498.1:n.-154G>T
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