Canonical Allele Identifier: CA214411625

Gene: HTRA1

Linked Data

• dbSNP Id: rs542642353
• gnomAD v2: 10-124266676-A-G
• gnomAD v3: 10-122507160-A-G
• gnomAD v4: 10-122507160-A-G
• MyVariant Identifiers: chr10:g.124266676A>G (hg19) ; chr10:g.122507160A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122507160A>G , CM000672.2:g.122507160A>G	GRCh38
NC_000010.10:g.124266676A>G , CM000672.1:g.124266676A>G	GRCh37
NC_000010.9:g.124256666A>G	NCBI36
NG_011554.1:g.50636A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.973-210A>G MANE Select	ENSP00000357980.3:n.973-210A>G
ENST00000648167.1:c.655-210A>G	ENSP00000498033.1:n.655-210A>G
ENST00000368984.7:c.973-210A>G	ENSP00000357980.3:n.973-210A>G
ENST00000420892.1:c.196-210A>G	ENSP00000412676.1:n.196-210A>G
NM_002775.4:c.973-210A>G	NP_002766.1:n.973-210A>G
NM_002775.5:c.973-210A>G MANE Select	NP_002766.1:n.973-210A>G