Canonical Allele Identifier: CA378606342
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348076
ClinVar RCV Id: RCV002044135
dbSNP Id: rs2133905461
gnomAD v4: 10-122462052-G-A
MyVariant Identifiers: chr10:g.124221568G>A (hg19) chr10:g.122462052G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462052G>A , CM000672.2:g.122462052G>A GRCh38
NC_000010.10:g.124221568G>A , CM000672.1:g.124221568G>A GRCh37
NC_000010.9:g.124211558G>A NCBI36
NG_011554.1:g.5528G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.400G>A MANE Select ENSP00000357980.3:p.Ala134Thr
ENST00000648167.1:c.154+3343G>A ENSP00000498033.1:n.154+3343G>A
ENST00000368984.7:c.400G>A ENSP00000357980.3:p.Ala134Thr
NM_002775.4:c.400G>A NP_002766.1:p.Ala134Thr
NM_002775.5:c.400G>A MANE Select NP_002766.1:p.Ala134Thr
Search 100 bp 5'
Search 100 bp 3'