Canonical Allele Identifier: CA471667095
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1289838798
gnomAD v3: 10-122508525-TC-T
gnomAD v4: 10-122508525-TC-T
MyVariant Identifiers: chr10:g.124268042del (hg19) chr10:g.122508526del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508529del , CM000672.2:g.122508529del GRCh38
NC_000010.10:g.124268045del , CM000672.1:g.124268045del GRCh37
NC_000010.9:g.124258035del NCBI36
NG_011554.1:g.52005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1006-127del MANE Select ENSP00000357980.3:n.1006-127del
ENST00000648167.1:c.688-127del ENSP00000498033.1:n.688-127del
ENST00000368984.7:c.1006-127del ENSP00000357980.3:n.1006-127del
ENST00000420892.1:c.229-127del ENSP00000412676.1:n.229-127del
NM_002775.4:c.1006-127del NP_002766.1:n.1006-127del
NM_002775.5:c.1006-127del MANE Select NP_002766.1:n.1006-127del
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