Canonical Allele Identifier: CA378606275
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462022A>C , CM000672.2:g.122462022A>C GRCh38
NC_000010.10:g.124221538A>C , CM000672.1:g.124221538A>C GRCh37
NC_000010.9:g.124211528A>C NCBI36
NG_011554.1:g.5498A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.370A>C MANE Select ENSP00000357980.3:p.Asn124His
ENST00000648167.1:c.154+3313A>C ENSP00000498033.1:n.154+3313A>C
ENST00000368984.7:c.370A>C ENSP00000357980.3:p.Asn124His
NM_002775.4:c.370A>C NP_002766.1:p.Asn124His
NM_002775.5:c.370A>C MANE Select NP_002766.1:p.Asn124His