Canonical Allele Identifier: CA5726031
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1581441
ClinVar RCV Id: RCV002088425
dbSNP Id: rs768614813
ExAC: 10:124268174 C / T
gnomAD v2: 10-124268174-C-T
gnomAD v3: 10-122508658-C-T
gnomAD v4: 10-122508658-C-T
COSMIC: COSM6303994
MyVariant Identifiers: chr10:g.124268174C>T (hg19) chr10:g.122508658C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508658C>T , CM000672.2:g.122508658C>T GRCh38
NC_000010.10:g.124268174C>T , CM000672.1:g.124268174C>T GRCh37
NC_000010.9:g.124258164C>T NCBI36
NG_011554.1:g.52134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1008C>T MANE Select ENSP00000357980.3:p.Asp336=
ENST00000648167.1:c.690C>T ENSP00000498033.1:p.Asp230=
ENST00000368984.7:c.1008C>T ENSP00000357980.3:p.Asp336=
ENST00000420892.1:c.231C>T ENSP00000412676.1:p.Asp77=
NM_002775.4:c.1008C>T NP_002766.1:p.Asp336=
NM_002775.5:c.1008C>T MANE Select NP_002766.1:p.Asp336=
Search 100 bp 5'
Search 100 bp 3'