Canonical Allele Identifier: CA378605711
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 878249
ClinVar RCV Id: RCV001104659 RCV003130155
dbSNP Id: rs1246114252
gnomAD v2: 10-124221344-G-C
gnomAD v3: 10-122461828-G-C
gnomAD v4: 10-122461828-G-C
MyVariant Identifiers: chr10:g.124221344G>C (hg19) chr10:g.122461828G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461828G>C , CM000672.2:g.122461828G>C GRCh38
NC_000010.10:g.124221344G>C , CM000672.1:g.124221344G>C GRCh37
NC_000010.9:g.124211334G>C NCBI36
NG_011554.1:g.5304G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.176G>C MANE Select ENSP00000357980.3:p.Arg59Pro
ENST00000648167.1:c.154+3119G>C ENSP00000498033.1:n.154+3119G>C
ENST00000368984.7:c.176G>C ENSP00000357980.3:p.Arg59Pro
NM_002775.4:c.176G>C NP_002766.1:p.Arg59Pro
NM_002775.5:c.176G>C MANE Select NP_002766.1:p.Arg59Pro
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Search 100 bp 3'