Canonical Allele Identifier: CA378586644

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124268229A>T (hg19) ; chr10:g.122508713A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508713A>T , CM000672.2:g.122508713A>T	GRCh38
NC_000010.10:g.124268229A>T , CM000672.1:g.124268229A>T	GRCh37
NC_000010.9:g.124258219A>T	NCBI36
NG_011554.1:g.52189A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1063A>T MANE Select	ENSP00000357980.3:p.Ile355Phe
ENST00000648167.1:c.745A>T	ENSP00000498033.1:p.Ile249Phe
ENST00000368984.7:c.1063A>T	ENSP00000357980.3:p.Ile355Phe
ENST00000420892.1:c.286A>T	ENSP00000412676.1:p.Ile96Phe
NM_002775.4:c.1063A>T	NP_002766.1:p.Ile355Phe
NM_002775.5:c.1063A>T MANE Select	NP_002766.1:p.Ile355Phe