Canonical Allele Identifier: CA933344709
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097503458
gnomAD v3: 10-122507267-C-T
gnomAD v4: 10-122507267-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122507267C>T , CM000672.2:g.122507267C>T GRCh38
NC_000010.10:g.124266783C>T , CM000672.1:g.124266783C>T GRCh37
NC_000010.9:g.124256773C>T NCBI36
NG_011554.1:g.50743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.973-103C>T MANE Select ENSP00000357980.3:n.973-103C>T
ENST00000648167.1:c.655-103C>T ENSP00000498033.1:n.655-103C>T
ENST00000368984.7:c.973-103C>T ENSP00000357980.3:n.973-103C>T
ENST00000420892.1:c.196-103C>T ENSP00000412676.1:n.196-103C>T
NM_002775.4:c.973-103C>T NP_002766.1:n.973-103C>T
NM_002775.5:c.973-103C>T MANE Select NP_002766.1:n.973-103C>T
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