Canonical Allele Identifier: CA5725935
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2640907
ClinVar RCV Id: RCV003394548
dbSNP Id: rs750423045
ExAC: 10:124266235 G / A
gnomAD v2: 10-124266235-G-A
gnomAD v3: 10-122506719-G-A
gnomAD v4: 10-122506719-G-A
COSMIC: COSM3806625
MyVariant Identifiers: chr10:g.124266235G>A (hg19) chr10:g.122506719G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506719G>A , CM000672.2:g.122506719G>A GRCh38
NC_000010.10:g.124266235G>A , CM000672.1:g.124266235G>A GRCh37
NC_000010.9:g.124256225G>A NCBI36
NG_011554.1:g.50195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.806G>A MANE Select ENSP00000357980.3:p.Arg269His
ENST00000648167.1:c.488G>A ENSP00000498033.1:p.Arg163His
ENST00000368984.7:c.806G>A ENSP00000357980.3:p.Arg269His
ENST00000420892.1:c.29G>A ENSP00000412676.1:p.Arg10His
NM_002775.4:c.806G>A NP_002766.1:p.Arg269His
NM_002775.5:c.806G>A MANE Select NP_002766.1:p.Arg269His
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