Canonical Allele Identifier: CA5725961
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 804657
ClinVar RCV Id: RCV000991734
dbSNP Id: rs769481765
ExAC: 10:124266313 G / A
gnomAD v2: 10-124266313-G-A
gnomAD v4: 10-122506797-G-A
MyVariant Identifiers: chr10:g.124266313G>A (hg19) chr10:g.122506797G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506797G>A , CM000672.2:g.122506797G>A GRCh38
NC_000010.10:g.124266313G>A , CM000672.1:g.124266313G>A GRCh37
NC_000010.9:g.124256303G>A NCBI36
NG_011554.1:g.50273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.884G>A MANE Select ENSP00000357980.3:p.Gly295Glu
ENST00000648167.1:c.566G>A ENSP00000498033.1:p.Gly189Glu
ENST00000368984.7:c.884G>A ENSP00000357980.3:p.Gly295Glu
ENST00000420892.1:c.107G>A ENSP00000412676.1:p.Gly36Glu
NM_002775.4:c.884G>A NP_002766.1:p.Gly295Glu
NM_002775.5:c.884G>A MANE Select NP_002766.1:p.Gly295Glu
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Search 100 bp 3'