Canonical Allele Identifier: CA5725957
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 299051
ClinVar RCV Id: RCV000400395 RCV000517598 RCV000761751
dbSNP Id: rs149294320
ExAC: 10:124266308 C / T
gnomAD v2: 10-124266308-C-T
gnomAD v3: 10-122506792-C-T
gnomAD v4: 10-122506792-C-T
MyVariant Identifiers: chr10:g.124266308C>T (hg19) chr10:g.122506792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506792C>T , CM000672.2:g.122506792C>T GRCh38
NC_000010.10:g.124266308C>T , CM000672.1:g.124266308C>T GRCh37
NC_000010.9:g.124256298C>T NCBI36
NG_011554.1:g.50268C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.879C>T MANE Select ENSP00000357980.3:p.Thr293=
ENST00000648167.1:c.561C>T ENSP00000498033.1:p.Thr187=
ENST00000368984.7:c.879C>T ENSP00000357980.3:p.Thr293=
ENST00000420892.1:c.102C>T ENSP00000412676.1:p.Thr34=
NM_002775.4:c.879C>T NP_002766.1:p.Thr293=
NM_002775.5:c.879C>T MANE Select NP_002766.1:p.Thr293=
Search 100 bp 5'
Search 100 bp 3'