Canonical Allele Identifier: CA262598397

Gene: PSEN1

Linked Data

• dbSNP Id: rs904788802
• gnomAD v4: 14-73136422-A-G
• MyVariant Identifiers: chr14:g.73603130A>G (hg19) ; chr14:g.73136422A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136422A>G , CM000676.2:g.73136422A>G	GRCh38
NC_000014.8:g.73603130A>G , CM000676.1:g.73603130A>G	GRCh37
NC_000014.7:g.72672883A>G	NCBI36
NG_007386.2:g.4952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557356.5:c.-162A>G	ENSP00000451498.1:n.-162A>G