Canonical Allele Identifier: CA378585661
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506799A>T , CM000672.2:g.122506799A>T GRCh38
NC_000010.10:g.124266315A>T , CM000672.1:g.124266315A>T GRCh37
NC_000010.9:g.124256305A>T NCBI36
NG_011554.1:g.50275A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.886A>T MANE Select ENSP00000357980.3:p.Ile296Phe
ENST00000648167.1:c.568A>T ENSP00000498033.1:p.Ile190Phe
ENST00000368984.7:c.886A>T ENSP00000357980.3:p.Ile296Phe
ENST00000420892.1:c.109A>T ENSP00000412676.1:p.Ile37Phe
NM_002775.4:c.886A>T NP_002766.1:p.Ile296Phe
NM_002775.5:c.886A>T MANE Select NP_002766.1:p.Ile296Phe