Canonical Allele Identifier: CA378585796
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506848C>A , CM000672.2:g.122506848C>A GRCh38
NC_000010.10:g.124266364C>A , CM000672.1:g.124266364C>A GRCh37
NC_000010.9:g.124256354C>A NCBI36
NG_011554.1:g.50324C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.935C>A MANE Select ENSP00000357980.3:p.Ser312Ter
ENST00000648167.1:c.617C>A ENSP00000498033.1:p.Ser206Ter
ENST00000368984.7:c.935C>A ENSP00000357980.3:p.Ser312Ter
ENST00000420892.1:c.158C>A ENSP00000412676.1:p.Ser53Ter
NM_002775.4:c.935C>A NP_002766.1:p.Ser312Ter
NM_002775.5:c.935C>A MANE Select NP_002766.1:p.Ser312Ter