Canonical Allele Identifier: CA933345455
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1591041114
gnomAD v3: 10-122508982-T-C
gnomAD v4: 10-122508982-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508982T>C , CM000672.2:g.122508982T>C GRCh38
NC_000010.10:g.124268498T>C , CM000672.1:g.124268498T>C GRCh37
NC_000010.9:g.124258488T>C NCBI36
NG_011554.1:g.52458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1120+212T>C MANE Select ENSP00000357980.3:n.1120+212T>C
ENST00000648167.1:c.802+212T>C ENSP00000498033.1:n.802+212T>C
ENST00000368984.7:c.1120+212T>C ENSP00000357980.3:n.1120+212T>C
ENST00000420892.1:c.343+212T>C ENSP00000412676.1:n.343+212T>C
NM_002775.4:c.1120+212T>C NP_002766.1:n.1120+212T>C
NM_002775.5:c.1120+212T>C MANE Select NP_002766.1:n.1120+212T>C
Search 100 bp 5'
Search 100 bp 3'