Canonical Allele Identifier: CA378585871

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124266396A>T (hg19) ; chr10:g.122506880A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122506880A>T , CM000672.2:g.122506880A>T	GRCh38
NC_000010.10:g.124266396A>T , CM000672.1:g.124266396A>T	GRCh37
NC_000010.9:g.124256386A>T	NCBI36
NG_011554.1:g.50356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.967A>T MANE Select	ENSP00000357980.3:p.Ile323Phe
ENST00000648167.1:c.649A>T	ENSP00000498033.1:p.Ile217Phe
ENST00000368984.7:c.967A>T	ENSP00000357980.3:p.Ile323Phe
ENST00000420892.1:c.190A>T	ENSP00000412676.1:p.Ile64Phe
NM_002775.4:c.967A>T	NP_002766.1:p.Ile323Phe
NM_002775.5:c.967A>T MANE Select	NP_002766.1:p.Ile323Phe