Canonical Allele Identifier: CA378585190
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506694A>C , CM000672.2:g.122506694A>C GRCh38
NC_000010.10:g.124266210A>C , CM000672.1:g.124266210A>C GRCh37
NC_000010.9:g.124256200A>C NCBI36
NG_011554.1:g.50170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.781A>C MANE Select ENSP00000357980.3:p.Lys261Gln
ENST00000648167.1:c.463A>C ENSP00000498033.1:p.Lys155Gln
ENST00000368984.7:c.781A>C ENSP00000357980.3:p.Lys261Gln
ENST00000420892.1:c.4A>C ENSP00000412676.1:p.Lys2Gln
NM_002775.4:c.781A>C NP_002766.1:p.Lys261Gln
NM_002775.5:c.781A>C MANE Select NP_002766.1:p.Lys261Gln