Canonical Allele Identifier: CA378585875
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506882C>G , CM000672.2:g.122506882C>G GRCh38
NC_000010.10:g.124266398C>G , CM000672.1:g.124266398C>G GRCh37
NC_000010.9:g.124256388C>G NCBI36
NG_011554.1:g.50358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.969C>G MANE Select ENSP00000357980.3:p.Ile323Met
ENST00000648167.1:c.651C>G ENSP00000498033.1:p.Ile217Met
ENST00000368984.7:c.969C>G ENSP00000357980.3:p.Ile323Met
ENST00000420892.1:c.192C>G ENSP00000412676.1:p.Ile64Met
NM_002775.4:c.969C>G NP_002766.1:p.Ile323Met
NM_002775.5:c.969C>G MANE Select NP_002766.1:p.Ile323Met