Canonical Allele Identifier: CA378586287
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508656G>A , CM000672.2:g.122508656G>A GRCh38
NC_000010.10:g.124268172G>A , CM000672.1:g.124268172G>A GRCh37
NC_000010.9:g.124258162G>A NCBI36
NG_011554.1:g.52132G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1006G>A MANE Select ENSP00000357980.3:p.Asp336Asn
ENST00000648167.1:c.688G>A ENSP00000498033.1:p.Asp230Asn
ENST00000368984.7:c.1006G>A ENSP00000357980.3:p.Asp336Asn
ENST00000420892.1:c.229G>A ENSP00000412676.1:p.Asp77Asn
NM_002775.4:c.1006G>A NP_002766.1:p.Asp336Asn
NM_002775.5:c.1006G>A MANE Select NP_002766.1:p.Asp336Asn