Canonical Allele Identifier: CA346794
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180746
dbSNP Id: rs587776449

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506874G>A , CM000672.2:g.122506874G>A GRCh38
NC_000010.10:g.124266390G>A , CM000672.1:g.124266390G>A GRCh37
NC_000010.9:g.124256380G>A NCBI36
NG_011554.1:g.50350G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.961G>A MANE Select ENSP00000357980.3:p.Ala321Thr
ENST00000648167.1:c.643G>A ENSP00000498033.1:p.Ala215Thr
ENST00000368984.7:c.961G>A ENSP00000357980.3:p.Ala321Thr
ENST00000420892.1:c.184G>A ENSP00000412676.1:p.Ala62Thr
NM_002775.4:c.961G>A NP_002766.1:p.Ala321Thr
NM_002775.5:c.961G>A MANE Select NP_002766.1:p.Ala321Thr