Canonical Allele Identifier: CA378586565
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508701A>G , CM000672.2:g.122508701A>G GRCh38
NC_000010.10:g.124268217A>G , CM000672.1:g.124268217A>G GRCh37
NC_000010.9:g.124258207A>G NCBI36
NG_011554.1:g.52177A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1051A>G MANE Select ENSP00000357980.3:p.Ile351Val
ENST00000648167.1:c.733A>G ENSP00000498033.1:p.Ile245Val
ENST00000368984.7:c.1051A>G ENSP00000357980.3:p.Ile351Val
ENST00000420892.1:c.274A>G ENSP00000412676.1:p.Ile92Val
NM_002775.4:c.1051A>G NP_002766.1:p.Ile351Val
NM_002775.5:c.1051A>G MANE Select NP_002766.1:p.Ile351Val