Canonical Allele Identifier: CA378586667
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508716C>A , CM000672.2:g.122508716C>A GRCh38
NC_000010.10:g.124268232C>A , CM000672.1:g.124268232C>A GRCh37
NC_000010.9:g.124258222C>A NCBI36
NG_011554.1:g.52192C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1066C>A MANE Select ENSP00000357980.3:p.Pro356Thr
ENST00000648167.1:c.748C>A ENSP00000498033.1:p.Pro250Thr
ENST00000368984.7:c.1066C>A ENSP00000357980.3:p.Pro356Thr
ENST00000420892.1:c.289C>A ENSP00000412676.1:p.Pro97Thr
NM_002775.4:c.1066C>A NP_002766.1:p.Pro356Thr
NM_002775.5:c.1066C>A MANE Select NP_002766.1:p.Pro356Thr