Canonical Allele Identifier: CA933344677
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097503380
gnomAD v3: 10-122507085-A-G
gnomAD v4: 10-122507085-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122507085A>G , CM000672.2:g.122507085A>G GRCh38
NC_000010.10:g.124266601A>G , CM000672.1:g.124266601A>G GRCh37
NC_000010.9:g.124256591A>G NCBI36
NG_011554.1:g.50561A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.972+200A>G MANE Select ENSP00000357980.3:n.972+200A>G
ENST00000648167.1:c.654+200A>G ENSP00000498033.1:n.654+200A>G
ENST00000368984.7:c.972+200A>G ENSP00000357980.3:n.972+200A>G
ENST00000420892.1:c.195+200A>G ENSP00000412676.1:n.195+200A>G
NM_002775.4:c.972+200A>G NP_002766.1:n.972+200A>G
NM_002775.5:c.972+200A>G MANE Select NP_002766.1:n.972+200A>G
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