Canonical Allele Identifier: CA378606248
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462010G>T , CM000672.2:g.122462010G>T GRCh38
NC_000010.10:g.124221526G>T , CM000672.1:g.124221526G>T GRCh37
NC_000010.9:g.124211516G>T NCBI36
NG_011554.1:g.5486G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.358G>T MANE Select ENSP00000357980.3:p.Gly120Cys
ENST00000648167.1:c.154+3301G>T ENSP00000498033.1:n.154+3301G>T
ENST00000368984.7:c.358G>T ENSP00000357980.3:p.Gly120Cys
NM_002775.4:c.358G>T NP_002766.1:p.Gly120Cys
NM_002775.5:c.358G>T MANE Select NP_002766.1:p.Gly120Cys