Canonical Allele Identifier: CA378606239
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462007T>C , CM000672.2:g.122462007T>C GRCh38
NC_000010.10:g.124221523T>C , CM000672.1:g.124221523T>C GRCh37
NC_000010.9:g.124211513T>C NCBI36
NG_011554.1:g.5483T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.355T>C MANE Select ENSP00000357980.3:p.Cys119Arg
ENST00000648167.1:c.154+3298T>C ENSP00000498033.1:n.154+3298T>C
ENST00000368984.7:c.355T>C ENSP00000357980.3:p.Cys119Arg
NM_002775.4:c.355T>C NP_002766.1:p.Cys119Arg
NM_002775.5:c.355T>C MANE Select NP_002766.1:p.Cys119Arg