Canonical Allele Identifier: CA378606312
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097481651

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462038T>A , CM000672.2:g.122462038T>A GRCh38
NC_000010.10:g.124221554T>A , CM000672.1:g.124221554T>A GRCh37
NC_000010.9:g.124211544T>A NCBI36
NG_011554.1:g.5514T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.386T>A MANE Select ENSP00000357980.3:p.Leu129Gln
ENST00000648167.1:c.154+3329T>A ENSP00000498033.1:n.154+3329T>A
ENST00000368984.7:c.386T>A ENSP00000357980.3:p.Leu129Gln
NM_002775.4:c.386T>A NP_002766.1:p.Leu129Gln
NM_002775.5:c.386T>A MANE Select NP_002766.1:p.Leu129Gln