Canonical Allele Identifier: CA5725807
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447571
ClinVar RCV Id: RCV000517689 RCV001851441
dbSNP Id: rs530087850
ExAC: 10:124221583 T / G
gnomAD v2: 10-124221583-T-G
gnomAD v3: 10-122462067-T-G
gnomAD v4: 10-122462067-T-G
MyVariant Identifiers: chr10:g.124221583T>G (hg19) chr10:g.122462067T>G (hg38)
PubMed: PMID:25929831
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462067T>G , CM000672.2:g.122462067T>G GRCh38
NC_000010.10:g.124221583T>G , CM000672.1:g.124221583T>G GRCh37
NC_000010.9:g.124211573T>G NCBI36
NG_011554.1:g.5543T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.415T>G MANE Select ENSP00000357980.3:p.Ser139Ala
ENST00000648167.1:c.154+3358T>G ENSP00000498033.1:n.154+3358T>G
ENST00000368984.7:c.415T>G ENSP00000357980.3:p.Ser139Ala
NM_002775.4:c.415T>G NP_002766.1:p.Ser139Ala
NM_002775.5:c.415T>G MANE Select NP_002766.1:p.Ser139Ala
Search 100 bp 5'
Search 100 bp 3'