Canonical Allele Identifier: CA596374939
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1378389273
gnomAD v2: 10-124231770-A-G
gnomAD v3: 10-122472254-A-G
gnomAD v4: 10-122472254-A-G
MyVariant Identifiers: chr10:g.124231770A>G (hg19) chr10:g.122472254A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472254A>G , CM000672.2:g.122472254A>G GRCh38
NC_000010.10:g.124231770A>G , CM000672.1:g.124231770A>G GRCh37
NC_000010.9:g.124221760A>G NCBI36
NG_011554.1:g.15730A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10130A>G MANE Select ENSP00000357980.3:n.472+10130A>G
ENST00000648167.1:c.154+13545A>G ENSP00000498033.1:n.154+13545A>G
ENST00000368984.7:c.472+10130A>G ENSP00000357980.3:n.472+10130A>G
NM_002775.4:c.472+10130A>G NP_002766.1:n.472+10130A>G
NM_002775.5:c.472+10130A>G MANE Select NP_002766.1:n.472+10130A>G
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