Canonical Allele Identifier: CA596378742

Gene: HTRA1

Linked Data

• dbSNP Id: rs1471305773
• gnomAD v2: 10-124256374-T-A
• gnomAD v3: 10-122496858-T-A
• gnomAD v4: 10-122496858-T-A
• MyVariant Identifiers: chr10:g.124256374T>A (hg19) ; chr10:g.122496858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122496858T>A , CM000672.2:g.122496858T>A	GRCh38
NC_000010.10:g.124256374T>A , CM000672.1:g.124256374T>A	GRCh37
NC_000010.9:g.124246364T>A	NCBI36
NG_011554.1:g.40334T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368984.8:c.777+7232T>A MANE Select	ENSP00000357980.3:n.777+7232T>A
ENST00000648167.1:c.459+7232T>A	ENSP00000498033.1:n.459+7232T>A
ENST00000368984.7:c.777+7232T>A	ENSP00000357980.3:n.777+7232T>A
NM_002775.4:c.777+7232T>A	NP_002766.1:n.777+7232T>A
NM_002775.5:c.777+7232T>A MANE Select	NP_002766.1:n.777+7232T>A