Canonical Allele Identifier: CA5726034
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 713621
ClinVar RCV Id: RCV000885790
dbSNP Id: rs371612872
ExAC: 10:124268231 C / T
gnomAD v2: 10-124268231-C-T
gnomAD v3: 10-122508715-C-T
gnomAD v4: 10-122508715-C-T
MyVariant Identifiers: chr10:g.124268231C>T (hg19) chr10:g.122508715C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508715C>T , CM000672.2:g.122508715C>T GRCh38
NC_000010.10:g.124268231C>T , CM000672.1:g.124268231C>T GRCh37
NC_000010.9:g.124258221C>T NCBI36
NG_011554.1:g.52191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1065C>T MANE Select ENSP00000357980.3:p.Ile355=
ENST00000648167.1:c.747C>T ENSP00000498033.1:p.Ile249=
ENST00000368984.7:c.1065C>T ENSP00000357980.3:p.Ile355=
ENST00000420892.1:c.288C>T ENSP00000412676.1:p.Ile96=
NM_002775.4:c.1065C>T NP_002766.1:p.Ile355=
NM_002775.5:c.1065C>T MANE Select NP_002766.1:p.Ile355=
Search 100 bp 5'
Search 100 bp 3'