Canonical Allele Identifier: CA378606388
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462074G>A , CM000672.2:g.122462074G>A GRCh38
NC_000010.10:g.124221590G>A , CM000672.1:g.124221590G>A GRCh37
NC_000010.9:g.124211580G>A NCBI36
NG_011554.1:g.5550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.422G>A MANE Select ENSP00000357980.3:p.Arg141Lys
ENST00000648167.1:c.154+3365G>A ENSP00000498033.1:n.154+3365G>A
ENST00000368984.7:c.422G>A ENSP00000357980.3:p.Arg141Lys
NM_002775.4:c.422G>A NP_002766.1:p.Arg141Lys
NM_002775.5:c.422G>A MANE Select NP_002766.1:p.Arg141Lys