Canonical Allele Identifier: CA378606048
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461915A>C , CM000672.2:g.122461915A>C GRCh38
NC_000010.10:g.124221431A>C , CM000672.1:g.124221431A>C GRCh37
NC_000010.9:g.124211421A>C NCBI36
NG_011554.1:g.5391A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.263A>C MANE Select ENSP00000357980.3:p.Gln88Pro
ENST00000648167.1:c.154+3206A>C ENSP00000498033.1:n.154+3206A>C
ENST00000368984.7:c.263A>C ENSP00000357980.3:p.Gln88Pro
NM_002775.4:c.263A>C NP_002766.1:p.Gln88Pro
NM_002775.5:c.263A>C MANE Select NP_002766.1:p.Gln88Pro