Canonical Allele Identifier: CA378585486

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124266273A>T (hg19) ; chr10:g.122506757A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506757A>T , CM000672.2:g.122506757A>T	GRCh38
NC_000010.10:g.124266273A>T , CM000672.1:g.124266273A>T	GRCh37
NC_000010.9:g.124256263A>T	NCBI36
NG_011554.1:g.50233A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.844A>T MANE Select	ENSP00000357980.3:p.Ile282Phe
ENST00000648167.1:c.526A>T	ENSP00000498033.1:p.Ile176Phe
ENST00000368984.7:c.844A>T	ENSP00000357980.3:p.Ile282Phe
ENST00000420892.1:c.67A>T	ENSP00000412676.1:p.Ile23Phe
NM_002775.4:c.844A>T	NP_002766.1:p.Ile282Phe
NM_002775.5:c.844A>T MANE Select	NP_002766.1:p.Ile282Phe