Canonical Allele Identifier: CA378586549
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1256107
ClinVar RCV Id: RCV001663449
dbSNP Id: rs2133450808
MyVariant Identifiers: chr10:g.124268214G>A (hg19) chr10:g.122508698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508698G>A , CM000672.2:g.122508698G>A GRCh38
NC_000010.10:g.124268214G>A , CM000672.1:g.124268214G>A GRCh37
NC_000010.9:g.124258204G>A NCBI36
NG_011554.1:g.52174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1048G>A MANE Select ENSP00000357980.3:p.Gly350Arg
ENST00000648167.1:c.730G>A ENSP00000498033.1:p.Gly244Arg
ENST00000368984.7:c.1048G>A ENSP00000357980.3:p.Gly350Arg
ENST00000420892.1:c.271G>A ENSP00000412676.1:p.Gly91Arg
NM_002775.4:c.1048G>A NP_002766.1:p.Gly350Arg
NM_002775.5:c.1048G>A MANE Select NP_002766.1:p.Gly350Arg
Search 100 bp 5'
Search 100 bp 3'