Canonical Allele Identifier: CA378606399
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462079C>T , CM000672.2:g.122462079C>T GRCh38
NC_000010.10:g.124221595C>T , CM000672.1:g.124221595C>T GRCh37
NC_000010.9:g.124211585C>T NCBI36
NG_011554.1:g.5555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.427C>T MANE Select ENSP00000357980.3:p.His143Tyr
ENST00000648167.1:c.154+3370C>T ENSP00000498033.1:n.154+3370C>T
ENST00000368984.7:c.427C>T ENSP00000357980.3:p.His143Tyr
NM_002775.4:c.427C>T NP_002766.1:p.His143Tyr
NM_002775.5:c.427C>T MANE Select NP_002766.1:p.His143Tyr