Canonical Allele Identifier: CA378585884
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1687432
ClinVar RCV Id: RCV002251114
dbSNP Id: rs1432594571
gnomAD v4: 10-122506886-G-C
MyVariant Identifiers: chr10:g.124266402G>C (hg19) chr10:g.122506886G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506886G>C , CM000672.2:g.122506886G>C GRCh38
NC_000010.10:g.124266402G>C , CM000672.1:g.124266402G>C GRCh37
NC_000010.9:g.124256392G>C NCBI36
NG_011554.1:g.50362G>C

Transcript Alleles

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