Canonical Allele Identifier: CA378606268

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124221534C>G (hg19) ; chr10:g.122462018C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122462018C>G , CM000672.2:g.122462018C>G	GRCh38
NC_000010.10:g.124221534C>G , CM000672.1:g.124221534C>G	GRCh37
NC_000010.9:g.124211524C>G	NCBI36
NG_011554.1:g.5494C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.366C>G MANE Select	ENSP00000357980.3:p.Asp122Glu
ENST00000648167.1:c.154+3309C>G	ENSP00000498033.1:n.154+3309C>G
ENST00000368984.7:c.366C>G	ENSP00000357980.3:p.Asp122Glu
NM_002775.4:c.366C>G	NP_002766.1:p.Asp122Glu
NM_002775.5:c.366C>G MANE Select	NP_002766.1:p.Asp122Glu