Canonical Allele Identifier: CA378586435
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1174129491
gnomAD v3: 10-122508676-T-G
gnomAD v4: 10-122508676-T-G
MyVariant Identifiers: chr10:g.124268192T>G (hg19) chr10:g.122508676T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508676T>G , CM000672.2:g.122508676T>G GRCh38
NC_000010.10:g.124268192T>G , CM000672.1:g.124268192T>G GRCh37
NC_000010.9:g.124258182T>G NCBI36
NG_011554.1:g.52152T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1026T>G MANE Select ENSP00000357980.3:p.Ile342Met
ENST00000648167.1:c.708T>G ENSP00000498033.1:p.Ile236Met
ENST00000368984.7:c.1026T>G ENSP00000357980.3:p.Ile342Met
ENST00000420892.1:c.249T>G ENSP00000412676.1:p.Ile83Met
NM_002775.4:c.1026T>G NP_002766.1:p.Ile342Met
NM_002775.5:c.1026T>G MANE Select NP_002766.1:p.Ile342Met
Search 100 bp 5'
Search 100 bp 3'