Canonical Allele Identifier: CA378585254
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097503195

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506707T>A , CM000672.2:g.122506707T>A GRCh38
NC_000010.10:g.124266223T>A , CM000672.1:g.124266223T>A GRCh37
NC_000010.9:g.124256213T>A NCBI36
NG_011554.1:g.50183T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.794T>A MANE Select ENSP00000357980.3:p.Leu265Gln
ENST00000648167.1:c.476T>A ENSP00000498033.1:p.Leu159Gln
ENST00000368984.7:c.794T>A ENSP00000357980.3:p.Leu265Gln
ENST00000420892.1:c.17T>A ENSP00000412676.1:p.Leu6Gln
NM_002775.4:c.794T>A NP_002766.1:p.Leu265Gln
NM_002775.5:c.794T>A MANE Select NP_002766.1:p.Leu265Gln