Canonical Allele Identifier: CA378586596
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508707T>G , CM000672.2:g.122508707T>G GRCh38
NC_000010.10:g.124268223T>G , CM000672.1:g.124268223T>G GRCh37
NC_000010.9:g.124258213T>G NCBI36
NG_011554.1:g.52183T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1057T>G MANE Select ENSP00000357980.3:p.Phe353Val
ENST00000648167.1:c.739T>G ENSP00000498033.1:p.Phe247Val
ENST00000368984.7:c.1057T>G ENSP00000357980.3:p.Phe353Val
ENST00000420892.1:c.280T>G ENSP00000412676.1:p.Phe94Val
NM_002775.4:c.1057T>G NP_002766.1:p.Phe353Val
NM_002775.5:c.1057T>G MANE Select NP_002766.1:p.Phe353Val