Canonical Allele Identifier: CA5725808
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2068502
ClinVar RCV Id: RCV002974874
dbSNP Id: rs755925985
ExAC: 10:124221585 C / G
gnomAD v2: 10-124221585-C-G
gnomAD v3: 10-122462069-C-G
gnomAD v4: 10-122462069-C-G
MyVariant Identifiers: chr10:g.124221585C>G (hg19) chr10:g.122462069C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462069C>G , CM000672.2:g.122462069C>G GRCh38
NC_000010.10:g.124221585C>G , CM000672.1:g.124221585C>G GRCh37
NC_000010.9:g.124211575C>G NCBI36
NG_011554.1:g.5545C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.417C>G MANE Select ENSP00000357980.3:p.Ser139=
ENST00000648167.1:c.154+3360C>G ENSP00000498033.1:n.154+3360C>G
ENST00000368984.7:c.417C>G ENSP00000357980.3:p.Ser139=
NM_002775.4:c.417C>G NP_002766.1:p.Ser139=
NM_002775.5:c.417C>G MANE Select NP_002766.1:p.Ser139=
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