Canonical Allele Identifier: CA262598396

Gene: PSEN1

Linked Data

• dbSNP Id: rs202209472
• gnomAD v2: 14-73603129-G-A
• gnomAD v3: 14-73136421-G-A
• gnomAD v4: 14-73136421-G-A
• MyVariant Identifiers: chr14:g.73603129G>A (hg19) ; chr14:g.73136421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136421G>A , CM000676.2:g.73136421G>A	GRCh38
NC_000014.8:g.73603129G>A , CM000676.1:g.73603129G>A	GRCh37
NC_000014.7:g.72672882G>A	NCBI36
NG_007386.2:g.4951G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557356.5:c.-163G>A	ENSP00000451498.1:n.-163G>A