Canonical Allele Identifier: CA378585220
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506701C>G , CM000672.2:g.122506701C>G GRCh38
NC_000010.10:g.124266217C>G , CM000672.1:g.124266217C>G GRCh37
NC_000010.9:g.124256207C>G NCBI36
NG_011554.1:g.50177C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.788C>G MANE Select ENSP00000357980.3:p.Pro263Arg
ENST00000648167.1:c.470C>G ENSP00000498033.1:p.Pro157Arg
ENST00000368984.7:c.788C>G ENSP00000357980.3:p.Pro263Arg
ENST00000420892.1:c.11C>G ENSP00000412676.1:p.Pro4Arg
NM_002775.4:c.788C>G NP_002766.1:p.Pro263Arg
NM_002775.5:c.788C>G MANE Select NP_002766.1:p.Pro263Arg