Canonical Allele Identifier: CA378585528
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506767C>A , CM000672.2:g.122506767C>A GRCh38
NC_000010.10:g.124266283C>A , CM000672.1:g.124266283C>A GRCh37
NC_000010.9:g.124256273C>A NCBI36
NG_011554.1:g.50243C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.854C>A MANE Select ENSP00000357980.3:p.Pro285Gln
ENST00000648167.1:c.536C>A ENSP00000498033.1:p.Pro179Gln
ENST00000368984.7:c.854C>A ENSP00000357980.3:p.Pro285Gln
ENST00000420892.1:c.77C>A ENSP00000412676.1:p.Pro26Gln
NM_002775.4:c.854C>A NP_002766.1:p.Pro285Gln
NM_002775.5:c.854C>A MANE Select NP_002766.1:p.Pro285Gln