Canonical Allele Identifier: CA1941459941
Gene: HTRA1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.385C= MANE Select ENSP00000357980.3:p.Leu129=
ENST00000648167.1:c.154+3328C= ENSP00000498033.1:n.154+3328C=
ENST00000368984.7:c.385C= ENSP00000357980.3:p.Leu129=
NM_002775.4:c.385C= NP_002766.1:p.Leu129=
NM_002775.5:c.385C= MANE Select NP_002766.1:p.Leu129=