Canonical Allele Identifier: CA471666985

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124266395C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506879C>T , CM000672.2:g.122506879C>T	GRCh38
NC_000010.10:g.124266395C>T , CM000672.1:g.124266395C>T	GRCh37
NC_000010.9:g.124256385C>T	NCBI36
NG_011554.1:g.50355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.966C>T MANE Select	ENSP00000357980.3:p.Ile322=
ENST00000648167.1:c.648C>T	ENSP00000498033.1:p.Ile216=
ENST00000368984.7:c.966C>T	ENSP00000357980.3:p.Ile322=
ENST00000420892.1:c.189C>T	ENSP00000412676.1:p.Ile63=
NM_002775.4:c.966C>T	NP_002766.1:p.Ile322=
NM_002775.5:c.966C>T MANE Select	NP_002766.1:p.Ile322=