Canonical Allele Identifier: CA378586898
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508754T>A , CM000672.2:g.122508754T>A GRCh38
NC_000010.10:g.124268270T>A , CM000672.1:g.124268270T>A GRCh37
NC_000010.9:g.124258260T>A NCBI36
NG_011554.1:g.52230T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1104T>A MANE Select ENSP00000357980.3:p.His368Gln
ENST00000648167.1:c.786T>A ENSP00000498033.1:p.His262Gln
ENST00000368984.7:c.1104T>A ENSP00000357980.3:p.His368Gln
ENST00000420892.1:c.327T>A ENSP00000412676.1:p.His109Gln
NM_002775.4:c.1104T>A NP_002766.1:p.His368Gln
NM_002775.5:c.1104T>A MANE Select NP_002766.1:p.His368Gln