Canonical Allele Identifier: CA378586763

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124268248A>T (hg19) ; chr10:g.122508732A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122508732A>T , CM000672.2:g.122508732A>T	GRCh38
NC_000010.10:g.124268248A>T , CM000672.1:g.124268248A>T	GRCh37
NC_000010.9:g.124258238A>T	NCBI36
NG_011554.1:g.52208A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.1082A>T MANE Select	ENSP00000357980.3:p.Lys361Ile
ENST00000648167.1:c.764A>T	ENSP00000498033.1:p.Lys255Ile
ENST00000368984.7:c.1082A>T	ENSP00000357980.3:p.Lys361Ile
ENST00000420892.1:c.305A>T	ENSP00000412676.1:p.Lys102Ile
NM_002775.4:c.1082A>T	NP_002766.1:p.Lys361Ile
NM_002775.5:c.1082A>T MANE Select	NP_002766.1:p.Lys361Ile