Canonical Allele Identifier: CA13172122
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1280393
ClinVar RCV Id: RCV001695545
dbSNP Id: rs28414499
gnomAD v2: 10-124266616-G-A
gnomAD v3: 10-122507100-G-A
gnomAD v4: 10-122507100-G-A
MyVariant Identifiers: chr10:g.124266616G>A (hg19) chr10:g.122507100G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122507100G>A , CM000672.2:g.122507100G>A GRCh38
NC_000010.10:g.124266616G>A , CM000672.1:g.124266616G>A GRCh37
NC_000010.9:g.124256606G>A NCBI36
NG_011554.1:g.50576G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.972+215G>A MANE Select ENSP00000357980.3:n.972+215G>A
ENST00000648167.1:c.654+215G>A ENSP00000498033.1:n.654+215G>A
ENST00000368984.7:c.972+215G>A ENSP00000357980.3:n.972+215G>A
ENST00000420892.1:c.195+215G>A ENSP00000412676.1:n.195+215G>A
NM_002775.4:c.972+215G>A NP_002766.1:n.972+215G>A
NM_002775.5:c.972+215G>A MANE Select NP_002766.1:n.972+215G>A
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