Canonical Allele Identifier: CA342726
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30244
ClinVar RCV Id: RCV000023168 RCV001852016
dbSNP Id: rs587776873
gnomAD v2: 10-124266312-G-A
gnomAD v4: 10-122506796-G-A
COSMIC: COSM5430263
MyVariant Identifiers: chr10:g.124266312G>A (hg19) chr10:g.122506796G>A (hg38)
PubMed: PMID:20437615 PMID:21115960
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506796G>A , CM000672.2:g.122506796G>A GRCh38
NC_000010.10:g.124266312G>A , CM000672.1:g.124266312G>A GRCh37
NC_000010.9:g.124256302G>A NCBI36
NG_011554.1:g.50272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.883G>A MANE Select ENSP00000357980.3:p.Gly295Arg
ENST00000648167.1:c.565G>A ENSP00000498033.1:p.Gly189Arg
ENST00000368984.7:c.883G>A ENSP00000357980.3:p.Gly295Arg
ENST00000420892.1:c.106G>A ENSP00000412676.1:p.Gly36Arg
NM_002775.4:c.883G>A NP_002766.1:p.Gly295Arg
NM_002775.5:c.883G>A MANE Select NP_002766.1:p.Gly295Arg
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