Canonical Allele Identifier: CA471669553
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1455945236
gnomAD v2: 10-124221594-G-A
gnomAD v4: 10-122462078-G-A
MyVariant Identifiers: chr10:g.124221594G>A (hg19) chr10:g.122462078G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462078G>A , CM000672.2:g.122462078G>A GRCh38
NC_000010.10:g.124221594G>A , CM000672.1:g.124221594G>A GRCh37
NC_000010.9:g.124211584G>A NCBI36
NG_011554.1:g.5554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.426G>A MANE Select ENSP00000357980.3:p.Leu142=
ENST00000648167.1:c.154+3369G>A ENSP00000498033.1:n.154+3369G>A
ENST00000368984.7:c.426G>A ENSP00000357980.3:p.Leu142=
NM_002775.4:c.426G>A NP_002766.1:p.Leu142=
NM_002775.5:c.426G>A MANE Select NP_002766.1:p.Leu142=
Search 100 bp 5'
Search 100 bp 3'