Canonical Allele Identifier: CA378606339
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2488636
ClinVar RCV Id: RCV003200682
dbSNP Id: rs1217678902
gnomAD v2: 10-124221566-G-A
gnomAD v3: 10-122462050-G-A
gnomAD v4: 10-122462050-G-A
MyVariant Identifiers: chr10:g.124221566G>A (hg19) chr10:g.122462050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462050G>A , CM000672.2:g.122462050G>A GRCh38
NC_000010.10:g.124221566G>A , CM000672.1:g.124221566G>A GRCh37
NC_000010.9:g.124211556G>A NCBI36
NG_011554.1:g.5526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.398G>A MANE Select ENSP00000357980.3:p.Arg133His
ENST00000648167.1:c.154+3341G>A ENSP00000498033.1:n.154+3341G>A
ENST00000368984.7:c.398G>A ENSP00000357980.3:p.Arg133His
NM_002775.4:c.398G>A NP_002766.1:p.Arg133His
NM_002775.5:c.398G>A MANE Select NP_002766.1:p.Arg133His
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