Canonical Allele Identifier: CA378586900
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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