Canonical Allele Identifier: CA378585732
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332825
ClinVar RCV Id: RCV002542419
dbSNP Id: rs2133449474
gnomAD v4: 10-122506818-G-A
COSMIC: COSM3866716
MyVariant Identifiers: chr10:g.124266334G>A (hg19) chr10:g.122506818G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506818G>A , CM000672.2:g.122506818G>A GRCh38
NC_000010.10:g.124266334G>A , CM000672.1:g.124266334G>A GRCh37
NC_000010.9:g.124256324G>A NCBI36
NG_011554.1:g.50294G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.905G>A MANE Select ENSP00000357980.3:p.Arg302Gln
ENST00000648167.1:c.587G>A ENSP00000498033.1:p.Arg196Gln
ENST00000368984.7:c.905G>A ENSP00000357980.3:p.Arg302Gln
ENST00000420892.1:c.128G>A ENSP00000412676.1:p.Arg43Gln
NM_002775.4:c.905G>A NP_002766.1:p.Arg302Gln
NM_002775.5:c.905G>A MANE Select NP_002766.1:p.Arg302Gln
Search 100 bp 5'
Search 100 bp 3'