Canonical Allele Identifier: CA378606289
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462028T>C , CM000672.2:g.122462028T>C GRCh38
NC_000010.10:g.124221544T>C , CM000672.1:g.124221544T>C GRCh37
NC_000010.9:g.124211534T>C NCBI36
NG_011554.1:g.5504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.376T>C MANE Select ENSP00000357980.3:p.Tyr126His
ENST00000648167.1:c.154+3319T>C ENSP00000498033.1:n.154+3319T>C
ENST00000368984.7:c.376T>C ENSP00000357980.3:p.Tyr126His
NM_002775.4:c.376T>C NP_002766.1:p.Tyr126His
NM_002775.5:c.376T>C MANE Select NP_002766.1:p.Tyr126His