Canonical Allele Identifier: CA378581110
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122489508A>C , CM000672.2:g.122489508A>C GRCh38
NC_000010.10:g.124249024A>C , CM000672.1:g.124249024A>C GRCh37
NC_000010.9:g.124239014A>C NCBI36
NG_011554.1:g.32984A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.659A>C MANE Select ENSP00000357980.3:p.His220Pro
ENST00000648167.1:c.341A>C ENSP00000498033.1:p.His114Pro
ENST00000368984.7:c.659A>C ENSP00000357980.3:p.His220Pro
NM_002775.4:c.659A>C NP_002766.1:p.His220Pro
NM_002775.5:c.659A>C MANE Select NP_002766.1:p.His220Pro