Canonical Allele Identifier: CA1941459949
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462039G= , CM000672.2:g.122462039G= GRCh38
NC_000010.10:g.124221555G= , CM000672.1:g.124221555G= GRCh37
NC_000010.9:g.124211545G= NCBI36
NG_011554.1:g.5515G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.387G= MANE Select ENSP00000357980.3:p.Leu129=
ENST00000648167.1:c.154+3330G= ENSP00000498033.1:n.154+3330G=
ENST00000368984.7:c.387G= ENSP00000357980.3:p.Leu129=
NM_002775.4:c.387G= NP_002766.1:p.Leu129=
NM_002775.5:c.387G= MANE Select NP_002766.1:p.Leu129=