Canonical Allele Identifier: CA378585755
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506827A>T , CM000672.2:g.122506827A>T GRCh38
NC_000010.10:g.124266343A>T , CM000672.1:g.124266343A>T GRCh37
NC_000010.9:g.124256333A>T NCBI36
NG_011554.1:g.50303A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.914A>T MANE Select ENSP00000357980.3:p.Lys305Ile
ENST00000648167.1:c.596A>T ENSP00000498033.1:p.Lys199Ile
ENST00000368984.7:c.914A>T ENSP00000357980.3:p.Lys305Ile
ENST00000420892.1:c.137A>T ENSP00000412676.1:p.Lys46Ile
NM_002775.4:c.914A>T NP_002766.1:p.Lys305Ile
NM_002775.5:c.914A>T MANE Select NP_002766.1:p.Lys305Ile