Canonical Allele Identifier: CA378605630
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490427
ClinVar RCV Id: RCV001983733
dbSNP Id: rs2097481474
gnomAD v4: 10-122461804-A-G
MyVariant Identifiers: chr10:g.124221320A>G (hg19) chr10:g.122461804A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461804A>G , CM000672.2:g.122461804A>G GRCh38
NC_000010.10:g.124221320A>G , CM000672.1:g.124221320A>G GRCh37
NC_000010.9:g.124211310A>G NCBI36
NG_011554.1:g.5280A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.152A>G MANE Select ENSP00000357980.3:p.Glu51Gly
ENST00000648167.1:c.154+3095A>G ENSP00000498033.1:n.154+3095A>G
ENST00000368984.7:c.152A>G ENSP00000357980.3:p.Glu51Gly
NM_002775.4:c.152A>G NP_002766.1:p.Glu51Gly
NM_002775.5:c.152A>G MANE Select NP_002766.1:p.Glu51Gly
Search 100 bp 5'
Search 100 bp 3'