Canonical Allele Identifier: CA378585857
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506874G>C , CM000672.2:g.122506874G>C GRCh38
NC_000010.10:g.124266390G>C , CM000672.1:g.124266390G>C GRCh37
NC_000010.9:g.124256380G>C NCBI36
NG_011554.1:g.50350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.961G>C MANE Select ENSP00000357980.3:p.Ala321Pro
ENST00000648167.1:c.643G>C ENSP00000498033.1:p.Ala215Pro
ENST00000368984.7:c.961G>C ENSP00000357980.3:p.Ala321Pro
ENST00000420892.1:c.184G>C ENSP00000412676.1:p.Ala62Pro
NM_002775.4:c.961G>C NP_002766.1:p.Ala321Pro
NM_002775.5:c.961G>C MANE Select NP_002766.1:p.Ala321Pro