Canonical Allele Identifier: CA378586460
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508683T>G , CM000672.2:g.122508683T>G GRCh38
NC_000010.10:g.124268199T>G , CM000672.1:g.124268199T>G GRCh37
NC_000010.9:g.124258189T>G NCBI36
NG_011554.1:g.52159T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1033T>G MANE Select ENSP00000357980.3:p.Leu345Val
ENST00000648167.1:c.715T>G ENSP00000498033.1:p.Leu239Val
ENST00000368984.7:c.1033T>G ENSP00000357980.3:p.Leu345Val
ENST00000420892.1:c.256T>G ENSP00000412676.1:p.Leu86Val
NM_002775.4:c.1033T>G NP_002766.1:p.Leu345Val
NM_002775.5:c.1033T>G MANE Select NP_002766.1:p.Leu345Val