Canonical Allele Identifier: CA378606224
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461999A>T , CM000672.2:g.122461999A>T GRCh38
NC_000010.10:g.124221515A>T , CM000672.1:g.124221515A>T GRCh37
NC_000010.9:g.124211505A>T NCBI36
NG_011554.1:g.5475A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.347A>T MANE Select ENSP00000357980.3:p.Glu116Val
ENST00000648167.1:c.154+3290A>T ENSP00000498033.1:n.154+3290A>T
ENST00000368984.7:c.347A>T ENSP00000357980.3:p.Glu116Val
NM_002775.4:c.347A>T NP_002766.1:p.Glu116Val
NM_002775.5:c.347A>T MANE Select NP_002766.1:p.Glu116Val