Canonical Allele Identifier: CA378606315
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462040T>A , CM000672.2:g.122462040T>A GRCh38
NC_000010.10:g.124221556T>A , CM000672.1:g.124221556T>A GRCh37
NC_000010.9:g.124211546T>A NCBI36
NG_011554.1:g.5516T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.388T>A MANE Select ENSP00000357980.3:p.Cys130Ser
ENST00000648167.1:c.154+3331T>A ENSP00000498033.1:n.154+3331T>A
ENST00000368984.7:c.388T>A ENSP00000357980.3:p.Cys130Ser
NM_002775.4:c.388T>A NP_002766.1:p.Cys130Ser
NM_002775.5:c.388T>A MANE Select NP_002766.1:p.Cys130Ser