Canonical Allele Identifier: CA378585582
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506780A>T , CM000672.2:g.122506780A>T GRCh38
NC_000010.10:g.124266296A>T , CM000672.1:g.124266296A>T GRCh37
NC_000010.9:g.124256286A>T NCBI36
NG_011554.1:g.50256A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.867A>T MANE Select ENSP00000357980.3:p.Gln289His
ENST00000648167.1:c.549A>T ENSP00000498033.1:p.Gln183His
ENST00000368984.7:c.867A>T ENSP00000357980.3:p.Gln289His
ENST00000420892.1:c.90A>T ENSP00000412676.1:p.Gln30His
NM_002775.4:c.867A>T NP_002766.1:p.Gln289His
NM_002775.5:c.867A>T MANE Select NP_002766.1:p.Gln289His