Canonical Allele Identifier: CA596378865

Gene: HTRA1

Linked Data

• dbSNP Id: rs1175167561
• gnomAD v2: 10-124220465-T-G
• gnomAD v3: 10-122460949-T-G
• gnomAD v4: 10-122460949-T-G
• MyVariant Identifiers: chr10:g.124220465T>G (hg19) ; chr10:g.122460949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122460949T>G , CM000672.2:g.122460949T>G	GRCh38
NC_000010.10:g.124220465T>G , CM000672.1:g.124220465T>G	GRCh37
NC_000010.9:g.124210455T>G	NCBI36
NG_011554.1:g.4425T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2240T>G	ENSP00000498033.1:n.154+2240T>G
XR_946382.1:n.410A>C
XR_946383.1:n.410A>C
XR_946384.1:n.410A>C
XR_946385.1:n.410A>C
XR_946382.2:n.438A>C
XR_946383.2:n.438A>C
XR_946384.2:n.414A>C
XR_946385.2:n.438A>C