Canonical Allele Identifier: CA340681
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7487
dbSNP Id: rs113993971

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508758C>T , CM000672.2:g.122508758C>T GRCh38
NC_000010.10:g.124268274C>T , CM000672.1:g.124268274C>T GRCh37
NC_000010.9:g.124258264C>T NCBI36
NG_011554.1:g.52234C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.1108C>T MANE Select ENSP00000357980.3:p.Arg370Ter
ENST00000648167.1:c.790C>T ENSP00000498033.1:p.Arg264Ter
ENST00000368984.7:c.1108C>T ENSP00000357980.3:p.Arg370Ter
ENST00000420892.1:c.331C>T ENSP00000412676.1:p.Arg111Ter
NM_002775.4:c.1108C>T NP_002766.1:p.Arg370Ter
NM_002775.5:c.1108C>T MANE Select NP_002766.1:p.Arg370Ter