Canonical Allele Identifier: CA708424154

Gene: PSEN1

Linked Data

• dbSNP Id: rs1384636259
• gnomAD v3: 14-73136420-C-T
• gnomAD v4: 14-73136420-C-T
• MyVariant Identifiers: chr14:g.73603128C>T (hg19) ; chr14:g.73136420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136420C>T , CM000676.2:g.73136420C>T	GRCh38
NC_000014.8:g.73603128C>T , CM000676.1:g.73603128C>T	GRCh37
NC_000014.7:g.72672881C>T	NCBI36
NG_007386.2:g.4950C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557356.5:c.-164C>T	ENSP00000451498.1:n.-164C>T