Canonical Allele Identifier: CA378606397

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124221593T>G (hg19) ; chr10:g.122462077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122462077T>G , CM000672.2:g.122462077T>G	GRCh38
NC_000010.10:g.124221593T>G , CM000672.1:g.124221593T>G	GRCh37
NC_000010.9:g.124211583T>G	NCBI36
NG_011554.1:g.5553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.425T>G MANE Select	ENSP00000357980.3:p.Leu142Arg
ENST00000648167.1:c.154+3368T>G	ENSP00000498033.1:n.154+3368T>G
ENST00000368984.7:c.425T>G	ENSP00000357980.3:p.Leu142Arg
NM_002775.4:c.425T>G	NP_002766.1:p.Leu142Arg
NM_002775.5:c.425T>G MANE Select	NP_002766.1:p.Leu142Arg