Canonical Allele Identifier: CA5725803
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 734428
ClinVar RCV Id: RCV000909847
dbSNP Id: rs765344403
ExAC: 10:124221519 G / T
gnomAD v2: 10-124221519-G-T
gnomAD v3: 10-122462003-G-T
gnomAD v4: 10-122462003-G-T
MyVariant Identifiers: chr10:g.124221519G>T (hg19) chr10:g.122462003G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462003G>T , CM000672.2:g.122462003G>T GRCh38
NC_000010.10:g.124221519G>T , CM000672.1:g.124221519G>T GRCh37
NC_000010.9:g.124211509G>T NCBI36
NG_011554.1:g.5479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.351G>T MANE Select ENSP00000357980.3:p.Pro117=
ENST00000648167.1:c.154+3294G>T ENSP00000498033.1:n.154+3294G>T
ENST00000368984.7:c.351G>T ENSP00000357980.3:p.Pro117=
NM_002775.4:c.351G>T NP_002766.1:p.Pro117=
NM_002775.5:c.351G>T MANE Select NP_002766.1:p.Pro117=
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Search 100 bp 3'