Canonical Allele Identifier: CA5725944

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 3054596
• ClinVar RCV Id: RCV003969524
• dbSNP Id: rs769420456
• ExAC: 10:124266266 G / A
• gnomAD v2: 10-124266266-G-A
• gnomAD v3: 10-122506750-G-A
• gnomAD v4: 10-122506750-G-A
• MyVariant Identifiers: chr10:g.124266266G>A (hg19) ; chr10:g.122506750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506750G>A , CM000672.2:g.122506750G>A	GRCh38
NC_000010.10:g.124266266G>A , CM000672.1:g.124266266G>A	GRCh37
NC_000010.9:g.124256256G>A	NCBI36
NG_011554.1:g.50226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.837G>A MANE Select	ENSP00000357980.3:p.Val279=
ENST00000648167.1:c.519G>A	ENSP00000498033.1:p.Val173=
ENST00000368984.7:c.837G>A	ENSP00000357980.3:p.Val279=
ENST00000420892.1:c.60G>A	ENSP00000412676.1:p.Val20=
NM_002775.4:c.837G>A	NP_002766.1:p.Val279=
NM_002775.5:c.837G>A MANE Select	NP_002766.1:p.Val279=