Canonical Allele Identifier: CA378579777
Gene: HTRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.122488926G>A
GRCh37 chr10:g.124248442G>A
Revel Score:
ENST00000368984 (MANE Select) 0.789
ENST00000435263 0.789
gnomAD v2:
10:124248442 G / A
gnomAD v3:
10:122488926 G / A
gnomAD v4:
chr10-122488926-G-A
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV002593107
ClinVar Variation:
1910224
dbSNP:
864622781
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122488926G>A , CM000672.2:g.122488926G>A GRCh38
NC_000010.10:g.124248442G>A , CM000672.1:g.124248442G>A GRCh37
NC_000010.9:g.124238432G>A NCBI36
NG_011554.1:g.32402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.497G>A MANE Select ENSP00000357980.3:p.Arg166His
ENST00000648167.1:c.179G>A ENSP00000498033.1:p.Arg60His
ENST00000368984.7:c.497G>A ENSP00000357980.3:p.Arg166His
NM_002775.4:c.497G>A NP_002766.1:p.Arg166His
NM_002775.5:c.497G>A MANE Select NP_002766.1:p.Arg166His
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