Canonical Allele Identifier: CA378585886
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506887T>A , CM000672.2:g.122506887T>A GRCh38
NC_000010.10:g.124266403T>A , CM000672.1:g.124266403T>A GRCh37
NC_000010.9:g.124256393T>A NCBI36
NG_011554.1:g.50363T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.972+2T>A MANE Select ENSP00000357980.3:n.972+2T>A
ENST00000648167.1:c.654+2T>A ENSP00000498033.1:n.654+2T>A
ENST00000368984.7:c.972+2T>A ENSP00000357980.3:n.972+2T>A
ENST00000420892.1:c.195+2T>A ENSP00000412676.1:n.195+2T>A
NM_002775.4:c.972+2T>A NP_002766.1:n.972+2T>A
NM_002775.5:c.972+2T>A MANE Select NP_002766.1:n.972+2T>A