Canonical Allele Identifier: CA378585674
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506803T>A , CM000672.2:g.122506803T>A GRCh38
NC_000010.10:g.124266319T>A , CM000672.1:g.124266319T>A GRCh37
NC_000010.9:g.124256309T>A NCBI36
NG_011554.1:g.50279T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.890T>A MANE Select ENSP00000357980.3:p.Val297Glu
ENST00000648167.1:c.572T>A ENSP00000498033.1:p.Val191Glu
ENST00000368984.7:c.890T>A ENSP00000357980.3:p.Val297Glu
ENST00000420892.1:c.113T>A ENSP00000412676.1:p.Val38Glu
NM_002775.4:c.890T>A NP_002766.1:p.Val297Glu
NM_002775.5:c.890T>A MANE Select NP_002766.1:p.Val297Glu