Canonical Allele Identifier: CA378585346
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506727G>A , CM000672.2:g.122506727G>A GRCh38
NC_000010.10:g.124266243G>A , CM000672.1:g.124266243G>A GRCh37
NC_000010.9:g.124256233G>A NCBI36
NG_011554.1:g.50203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.814G>A MANE Select ENSP00000357980.3:p.Glu272Lys
ENST00000648167.1:c.496G>A ENSP00000498033.1:p.Glu166Lys
ENST00000368984.7:c.814G>A ENSP00000357980.3:p.Glu272Lys
ENST00000420892.1:c.37G>A ENSP00000412676.1:p.Glu13Lys
NM_002775.4:c.814G>A NP_002766.1:p.Glu272Lys
NM_002775.5:c.814G>A MANE Select NP_002766.1:p.Glu272Lys