Canonical Allele Identifier: CA378586720
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508725A>G , CM000672.2:g.122508725A>G GRCh38
NC_000010.10:g.124268241A>G , CM000672.1:g.124268241A>G GRCh37
NC_000010.9:g.124258231A>G NCBI36
NG_011554.1:g.52201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1075A>G MANE Select ENSP00000357980.3:p.Lys359Glu
ENST00000648167.1:c.757A>G ENSP00000498033.1:p.Lys253Glu
ENST00000368984.7:c.1075A>G ENSP00000357980.3:p.Lys359Glu
ENST00000420892.1:c.298A>G ENSP00000412676.1:p.Lys100Glu
NM_002775.4:c.1075A>G NP_002766.1:p.Lys359Glu
NM_002775.5:c.1075A>G MANE Select NP_002766.1:p.Lys359Glu