Canonical Allele Identifier: CA378585233
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506703G>T , CM000672.2:g.122506703G>T GRCh38
NC_000010.10:g.124266219G>T , CM000672.1:g.124266219G>T GRCh37
NC_000010.9:g.124256209G>T NCBI36
NG_011554.1:g.50179G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.790G>T MANE Select ENSP00000357980.3:p.Val264Phe
ENST00000648167.1:c.472G>T ENSP00000498033.1:p.Val158Phe
ENST00000368984.7:c.790G>T ENSP00000357980.3:p.Val264Phe
ENST00000420892.1:c.13G>T ENSP00000412676.1:p.Val5Phe
NM_002775.4:c.790G>T NP_002766.1:p.Val264Phe
NM_002775.5:c.790G>T MANE Select NP_002766.1:p.Val264Phe