Canonical Allele Identifier: CA378585212
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506700C>A , CM000672.2:g.122506700C>A GRCh38
NC_000010.10:g.124266216C>A , CM000672.1:g.124266216C>A GRCh37
NC_000010.9:g.124256206C>A NCBI36
NG_011554.1:g.50176C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.787C>A MANE Select ENSP00000357980.3:p.Pro263Thr
ENST00000648167.1:c.469C>A ENSP00000498033.1:p.Pro157Thr
ENST00000368984.7:c.787C>A ENSP00000357980.3:p.Pro263Thr
ENST00000420892.1:c.10C>A ENSP00000412676.1:p.Pro4Thr
NM_002775.4:c.787C>A NP_002766.1:p.Pro263Thr
NM_002775.5:c.787C>A MANE Select NP_002766.1:p.Pro263Thr