Canonical Allele Identifier: CA378606311
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462037C>G , CM000672.2:g.122462037C>G GRCh38
NC_000010.10:g.124221553C>G , CM000672.1:g.124221553C>G GRCh37
NC_000010.9:g.124211543C>G NCBI36
NG_011554.1:g.5513C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.385C>G MANE Select ENSP00000357980.3:p.Leu129Val
ENST00000648167.1:c.154+3328C>G ENSP00000498033.1:n.154+3328C>G
ENST00000368984.7:c.385C>G ENSP00000357980.3:p.Leu129Val
NM_002775.4:c.385C>G NP_002766.1:p.Leu129Val
NM_002775.5:c.385C>G MANE Select NP_002766.1:p.Leu129Val