Canonical Allele Identifier: CA5726024

Gene: HTRA1

Linked Data

• dbSNP Id: rs200109152
• ExAC: 10:124268138 C / G
• gnomAD v2: 10-124268138-C-G
• gnomAD v3: 10-122508622-C-G
• gnomAD v4: 10-122508622-C-G
• MyVariant Identifiers: chr10:g.124268138C>G (hg19) ; chr10:g.122508622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508622C>G , CM000672.2:g.122508622C>G	GRCh38
NC_000010.10:g.124268138C>G , CM000672.1:g.124268138C>G	GRCh37
NC_000010.9:g.124258128C>G	NCBI36
NG_011554.1:g.52098C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1006-34C>G MANE Select	ENSP00000357980.3:n.1006-34C>G
ENST00000648167.1:c.688-34C>G	ENSP00000498033.1:n.688-34C>G
ENST00000368984.7:c.1006-34C>G	ENSP00000357980.3:n.1006-34C>G
ENST00000420892.1:c.229-34C>G	ENSP00000412676.1:n.229-34C>G
NM_002775.4:c.1006-34C>G	NP_002766.1:n.1006-34C>G
NM_002775.5:c.1006-34C>G MANE Select	NP_002766.1:n.1006-34C>G