Canonical Allele Identifier: CA5725943

Gene: HTRA1

Linked Data

• ClinVar Variation Id: 977743
• ClinVar RCV Id: RCV001255607 ; RCV001726471
• dbSNP Id: rs745305935
• ExAC: 10:124266264 G / A
• gnomAD v2: 10-124266264-G-A
• gnomAD v3: 10-122506748-G-A
• gnomAD v4: 10-122506748-G-A
• MyVariant Identifiers: chr10:g.124266264G>A (hg19) ; chr10:g.122506748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506748G>A , CM000672.2:g.122506748G>A	GRCh38
NC_000010.10:g.124266264G>A , CM000672.1:g.124266264G>A	GRCh37
NC_000010.9:g.124256254G>A	NCBI36
NG_011554.1:g.50224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.835G>A MANE Select	ENSP00000357980.3:p.Val279Met
ENST00000648167.1:c.517G>A	ENSP00000498033.1:p.Val173Met
ENST00000368984.7:c.835G>A	ENSP00000357980.3:p.Val279Met
ENST00000420892.1:c.58G>A	ENSP00000412676.1:p.Val20Met
NM_002775.4:c.835G>A	NP_002766.1:p.Val279Met
NM_002775.5:c.835G>A MANE Select	NP_002766.1:p.Val279Met