Canonical Allele Identifier: CA2589174737

Gene: HTRA1

Linked Data

• dbSNP Id: rs2133904029
• gnomAD v3: 10-122461113-C-A
• gnomAD v4: 10-122461113-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461113C>A , CM000672.2:g.122461113C>A	GRCh38
NC_000010.10:g.124220629C>A , CM000672.1:g.124220629C>A	GRCh37
NC_000010.9:g.124210619C>A	NCBI36
NG_011554.1:g.4589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648167.1:c.154+2404C>A	ENSP00000498033.1:n.154+2404C>A
XR_946382.1:n.246G>T
XR_946383.1:n.246G>T
XR_946384.1:n.246G>T
XR_946385.1:n.246G>T
XR_946382.2:n.274G>T
XR_946383.2:n.274G>T
XR_946384.2:n.250G>T
XR_946385.2:n.274G>T