Canonical Allele Identifier: CA378585667
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493083
ClinVar RCV Id: RCV000585556
dbSNP Id: rs775112869
MyVariant Identifiers: chr10:g.124266317C>G (hg19) chr10:g.122506801C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506801C>G , CM000672.2:g.122506801C>G GRCh38
NC_000010.10:g.124266317C>G , CM000672.1:g.124266317C>G GRCh37
NC_000010.9:g.124256307C>G NCBI36
NG_011554.1:g.50277C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.888C>G MANE Select ENSP00000357980.3:p.Ile296Met
ENST00000648167.1:c.570C>G ENSP00000498033.1:p.Ile190Met
ENST00000368984.7:c.888C>G ENSP00000357980.3:p.Ile296Met
ENST00000420892.1:c.111C>G ENSP00000412676.1:p.Ile37Met
NM_002775.4:c.888C>G NP_002766.1:p.Ile296Met
NM_002775.5:c.888C>G MANE Select NP_002766.1:p.Ile296Met
Search 100 bp 5'
Search 100 bp 3'