Canonical Allele Identifier: CA378585655
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506797G>T , CM000672.2:g.122506797G>T GRCh38
NC_000010.10:g.124266313G>T , CM000672.1:g.124266313G>T GRCh37
NC_000010.9:g.124256303G>T NCBI36
NG_011554.1:g.50273G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.884G>T MANE Select ENSP00000357980.3:p.Gly295Val
ENST00000648167.1:c.566G>T ENSP00000498033.1:p.Gly189Val
ENST00000368984.7:c.884G>T ENSP00000357980.3:p.Gly295Val
ENST00000420892.1:c.107G>T ENSP00000412676.1:p.Gly36Val
NM_002775.4:c.884G>T NP_002766.1:p.Gly295Val
NM_002775.5:c.884G>T MANE Select NP_002766.1:p.Gly295Val