Canonical Allele Identifier: CA378585283
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506713T>A , CM000672.2:g.122506713T>A GRCh38
NC_000010.10:g.124266229T>A , CM000672.1:g.124266229T>A GRCh37
NC_000010.9:g.124256219T>A NCBI36
NG_011554.1:g.50189T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.800T>A MANE Select ENSP00000357980.3:p.Leu267His
ENST00000648167.1:c.482T>A ENSP00000498033.1:p.Leu161His
ENST00000368984.7:c.800T>A ENSP00000357980.3:p.Leu267His
ENST00000420892.1:c.23T>A ENSP00000412676.1:p.Leu8His
NM_002775.4:c.800T>A NP_002766.1:p.Leu267His
NM_002775.5:c.800T>A MANE Select NP_002766.1:p.Leu267His