Canonical Allele Identifier: CA378585333
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506724T>C , CM000672.2:g.122506724T>C GRCh38
NC_000010.10:g.124266240T>C , CM000672.1:g.124266240T>C GRCh37
NC_000010.9:g.124256230T>C NCBI36
NG_011554.1:g.50200T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.811T>C MANE Select ENSP00000357980.3:p.Ser271Pro
ENST00000648167.1:c.493T>C ENSP00000498033.1:p.Ser165Pro
ENST00000368984.7:c.811T>C ENSP00000357980.3:p.Ser271Pro
ENST00000420892.1:c.34T>C ENSP00000412676.1:p.Ser12Pro
NM_002775.4:c.811T>C NP_002766.1:p.Ser271Pro
NM_002775.5:c.811T>C MANE Select NP_002766.1:p.Ser271Pro