Canonical Allele Identifier: CA340683
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7488
dbSNP Id: rs113993970

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506817C>T , CM000672.2:g.122506817C>T GRCh38
NC_000010.10:g.124266333C>T , CM000672.1:g.124266333C>T GRCh37
NC_000010.9:g.124256323C>T NCBI36
NG_011554.1:g.50293C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.904C>T MANE Select ENSP00000357980.3:p.Arg302Ter
ENST00000648167.1:c.586C>T ENSP00000498033.1:p.Arg196Ter
ENST00000368984.7:c.904C>T ENSP00000357980.3:p.Arg302Ter
ENST00000420892.1:c.127C>T ENSP00000412676.1:p.Arg43Ter
NM_002775.4:c.904C>T NP_002766.1:p.Arg302Ter
NM_002775.5:c.904C>T MANE Select NP_002766.1:p.Arg302Ter