Canonical Allele Identifier: CA2611247000
Gene: HTRA1 HGNC NCBI

Linked Data

gnomAD v4: 10-122508602-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508602T>C , CM000672.2:g.122508602T>C GRCh38
NC_000010.10:g.124268118T>C , CM000672.1:g.124268118T>C GRCh37
NC_000010.9:g.124258108T>C NCBI36
NG_011554.1:g.52078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1006-54T>C MANE Select ENSP00000357980.3:n.1006-54T>C
ENST00000648167.1:c.688-54T>C ENSP00000498033.1:n.688-54T>C
ENST00000368984.7:c.1006-54T>C ENSP00000357980.3:n.1006-54T>C
ENST00000420892.1:c.229-54T>C ENSP00000412676.1:n.229-54T>C
NM_002775.4:c.1006-54T>C NP_002766.1:n.1006-54T>C
NM_002775.5:c.1006-54T>C MANE Select NP_002766.1:n.1006-54T>C
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