Canonical Allele Identifier: CA214414605

Gene: HTRA1

Linked Data

• dbSNP Id: rs1005550117
• gnomAD v2: 10-124220558-C-G
• gnomAD v3: 10-122461042-C-G
• gnomAD v4: 10-122461042-C-G
• MyVariant Identifiers: chr10:g.124220558C>G (hg19) ; chr10:g.122461042C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461042C>G , CM000672.2:g.122461042C>G	GRCh38
NC_000010.10:g.124220558C>G , CM000672.1:g.124220558C>G	GRCh37
NC_000010.9:g.124210548C>G	NCBI36
NG_011554.1:g.4518C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2333C>G	ENSP00000498033.1:n.154+2333C>G
XR_946382.1:n.317G>C
XR_946383.1:n.317G>C
XR_946384.1:n.317G>C
XR_946385.1:n.317G>C
XR_946382.2:n.345G>C
XR_946383.2:n.345G>C
XR_946384.2:n.321G>C
XR_946385.2:n.345G>C