Canonical Allele Identifier: CA378586514
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508692A>G , CM000672.2:g.122508692A>G GRCh38
NC_000010.10:g.124268208A>G , CM000672.1:g.124268208A>G GRCh37
NC_000010.9:g.124258198A>G NCBI36
NG_011554.1:g.52168A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1042A>G MANE Select ENSP00000357980.3:p.Thr348Ala
ENST00000648167.1:c.724A>G ENSP00000498033.1:p.Thr242Ala
ENST00000368984.7:c.1042A>G ENSP00000357980.3:p.Thr348Ala
ENST00000420892.1:c.265A>G ENSP00000412676.1:p.Thr89Ala
NM_002775.4:c.1042A>G NP_002766.1:p.Thr348Ala
NM_002775.5:c.1042A>G MANE Select NP_002766.1:p.Thr348Ala