Canonical Allele Identifier: CA378585489
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506758T>G , CM000672.2:g.122506758T>G GRCh38
NC_000010.10:g.124266274T>G , CM000672.1:g.124266274T>G GRCh37
NC_000010.9:g.124256264T>G NCBI36
NG_011554.1:g.50234T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.845T>G MANE Select ENSP00000357980.3:p.Ile282Ser
ENST00000648167.1:c.527T>G ENSP00000498033.1:p.Ile176Ser
ENST00000368984.7:c.845T>G ENSP00000357980.3:p.Ile282Ser
ENST00000420892.1:c.68T>G ENSP00000412676.1:p.Ile23Ser
NM_002775.4:c.845T>G NP_002766.1:p.Ile282Ser
NM_002775.5:c.845T>G MANE Select NP_002766.1:p.Ile282Ser