Canonical Allele Identifier: CA214389684

Gene: HTRA1

Linked Data

• dbSNP Id: rs966205477
• gnomAD v2: 10-124231631-T-A
• gnomAD v3: 10-122472115-T-A
• gnomAD v4: 10-122472115-T-A
• MyVariant Identifiers: chr10:g.124231631T>A (hg19) ; chr10:g.122472115T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122472115T>A , CM000672.2:g.122472115T>A	GRCh38
NC_000010.10:g.124231631T>A , CM000672.1:g.124231631T>A	GRCh37
NC_000010.9:g.124221621T>A	NCBI36
NG_011554.1:g.15591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.472+9991T>A MANE Select	ENSP00000357980.3:n.472+9991T>A
ENST00000648167.1:c.154+13406T>A	ENSP00000498033.1:n.154+13406T>A
ENST00000368984.7:c.472+9991T>A	ENSP00000357980.3:n.472+9991T>A
NM_002775.4:c.472+9991T>A	NP_002766.1:n.472+9991T>A
NM_002775.5:c.472+9991T>A MANE Select	NP_002766.1:n.472+9991T>A