Canonical Allele Identifier: CA378606329
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462045G>C , CM000672.2:g.122462045G>C GRCh38
NC_000010.10:g.124221561G>C , CM000672.1:g.124221561G>C GRCh37
NC_000010.9:g.124211551G>C NCBI36
NG_011554.1:g.5521G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.393G>C MANE Select ENSP00000357980.3:p.Gln131His
ENST00000648167.1:c.154+3336G>C ENSP00000498033.1:n.154+3336G>C
ENST00000368984.7:c.393G>C ENSP00000357980.3:p.Gln131His
NM_002775.4:c.393G>C NP_002766.1:p.Gln131His
NM_002775.5:c.393G>C MANE Select NP_002766.1:p.Gln131His