Canonical Allele Identifier: CA933344693
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097503407
gnomAD v3: 10-122507147-G-A
gnomAD v4: 10-122507147-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122507147G>A , CM000672.2:g.122507147G>A GRCh38
NC_000010.10:g.124266663G>A , CM000672.1:g.124266663G>A GRCh37
NC_000010.9:g.124256653G>A NCBI36
NG_011554.1:g.50623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.973-223G>A MANE Select ENSP00000357980.3:n.973-223G>A
ENST00000648167.1:c.655-223G>A ENSP00000498033.1:n.655-223G>A
ENST00000368984.7:c.973-223G>A ENSP00000357980.3:n.973-223G>A
ENST00000420892.1:c.196-223G>A ENSP00000412676.1:n.196-223G>A
NM_002775.4:c.973-223G>A NP_002766.1:n.973-223G>A
NM_002775.5:c.973-223G>A MANE Select NP_002766.1:n.973-223G>A
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