Canonical Allele Identifier: CA340685
Gene: HTRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.122506802G>A
GRCh37 chr10:g.124266318G>A
Revel Score:
ENST00000368984 (MANE Select) 0.925
ENST00000435263 0.925
ENST00000420892 0.925
gnomAD v3:
10:122506802 G / A
gnomAD v4:
chr10-122506802-G-A
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV000007918
ClinVar Variation:
7489
dbSNP:
113993969
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506802G>A , CM000672.2:g.122506802G>A GRCh38
NC_000010.10:g.124266318G>A , CM000672.1:g.124266318G>A GRCh37
NC_000010.9:g.124256308G>A NCBI36
NG_011554.1:g.50278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.889G>A MANE Select ENSP00000357980.3:p.Val297Met
ENST00000648167.1:c.571G>A ENSP00000498033.1:p.Val191Met
ENST00000368984.7:c.889G>A ENSP00000357980.3:p.Val297Met
ENST00000420892.1:c.112G>A ENSP00000412676.1:p.Val38Met
NM_002775.4:c.889G>A NP_002766.1:p.Val297Met
NM_002775.5:c.889G>A MANE Select NP_002766.1:p.Val297Met
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