Canonical Allele Identifier: CA378586531
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508693C>T , CM000672.2:g.122508693C>T GRCh38
NC_000010.10:g.124268209C>T , CM000672.1:g.124268209C>T GRCh37
NC_000010.9:g.124258199C>T NCBI36
NG_011554.1:g.52169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1043C>T MANE Select ENSP00000357980.3:p.Thr348Ile
ENST00000648167.1:c.725C>T ENSP00000498033.1:p.Thr242Ile
ENST00000368984.7:c.1043C>T ENSP00000357980.3:p.Thr348Ile
ENST00000420892.1:c.266C>T ENSP00000412676.1:p.Thr89Ile
NM_002775.4:c.1043C>T NP_002766.1:p.Thr348Ile
NM_002775.5:c.1043C>T MANE Select NP_002766.1:p.Thr348Ile