Canonical Allele Identifier: CA378585550
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506773C>A , CM000672.2:g.122506773C>A GRCh38
NC_000010.10:g.124266289C>A , CM000672.1:g.124266289C>A GRCh37
NC_000010.9:g.124256279C>A NCBI36
NG_011554.1:g.50249C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.860C>A MANE Select ENSP00000357980.3:p.Ser287Tyr
ENST00000648167.1:c.542C>A ENSP00000498033.1:p.Ser181Tyr
ENST00000368984.7:c.860C>A ENSP00000357980.3:p.Ser287Tyr
ENST00000420892.1:c.83C>A ENSP00000412676.1:p.Ser28Tyr
NM_002775.4:c.860C>A NP_002766.1:p.Ser287Tyr
NM_002775.5:c.860C>A MANE Select NP_002766.1:p.Ser287Tyr