Canonical Allele Identifier: CA378606276
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414737
ClinVar RCV Id: RCV001930622
dbSNP Id: rs2133905421

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.370A>G MANE Select ENSP00000357980.3:p.Asn124Asp
ENST00000648167.1:c.154+3313A>G ENSP00000498033.1:n.154+3313A>G
ENST00000368984.7:c.370A>G ENSP00000357980.3:p.Asn124Asp
NM_002775.4:c.370A>G NP_002766.1:p.Asn124Asp
NM_002775.5:c.370A>G MANE Select NP_002766.1:p.Asn124Asp