Canonical Allele Identifier: CA378606232
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462002C>A , CM000672.2:g.122462002C>A GRCh38
NC_000010.10:g.124221518C>A , CM000672.1:g.124221518C>A GRCh37
NC_000010.9:g.124211508C>A NCBI36
NG_011554.1:g.5478C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.350C>A MANE Select ENSP00000357980.3:p.Pro117Gln
ENST00000648167.1:c.154+3293C>A ENSP00000498033.1:n.154+3293C>A
ENST00000368984.7:c.350C>A ENSP00000357980.3:p.Pro117Gln
NM_002775.4:c.350C>A NP_002766.1:p.Pro117Gln
NM_002775.5:c.350C>A MANE Select NP_002766.1:p.Pro117Gln