Canonical Allele Identifier: CA5725811
Gene: HTRA1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.122462103C>A
GRCh37 chr10:g.124221619C>A
Revel Score:
ENST00000368984 (MANE Select) 0.229
ENST00000435263 0.229
gnomAD v2:
10:124221619 C / A
gnomAD v3:
10:122462103 C / A
gnomAD v4:
chr10-122462103-C-A
Joint Max Group AF 0.00037782 (NFE)
Genomes Max Group AF 0.00027984 (NFE)
Exomes Max Group AF 0.00037816 (NFE)
ClinVar RCV:
RCV001091419
RCV001104661
ClinVar Variation:
871447
dbSNP:
754645487
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462103C>A , CM000672.2:g.122462103C>A GRCh38
NC_000010.10:g.124221619C>A , CM000672.1:g.124221619C>A GRCh37
NC_000010.9:g.124211609C>A NCBI36
NG_011554.1:g.5579C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.451C>A MANE Select ENSP00000357980.3:p.Gln151Lys
ENST00000648167.1:c.154+3394C>A ENSP00000498033.1:n.154+3394C>A
ENST00000368984.7:c.451C>A ENSP00000357980.3:p.Gln151Lys
NM_002775.4:c.451C>A NP_002766.1:p.Gln151Lys
NM_002775.5:c.451C>A MANE Select NP_002766.1:p.Gln151Lys
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