Canonical Allele Identifier: CA378586683
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508720C>A , CM000672.2:g.122508720C>A GRCh38
NC_000010.10:g.124268236C>A , CM000672.1:g.124268236C>A GRCh37
NC_000010.9:g.124258226C>A NCBI36
NG_011554.1:g.52196C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1070C>A MANE Select ENSP00000357980.3:p.Ser357Tyr
ENST00000648167.1:c.752C>A ENSP00000498033.1:p.Ser251Tyr
ENST00000368984.7:c.1070C>A ENSP00000357980.3:p.Ser357Tyr
ENST00000420892.1:c.293C>A ENSP00000412676.1:p.Ser98Tyr
NM_002775.4:c.1070C>A NP_002766.1:p.Ser357Tyr
NM_002775.5:c.1070C>A MANE Select NP_002766.1:p.Ser357Tyr