Canonical Allele Identifier: CA1941460005
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462078G= , CM000672.2:g.122462078G= GRCh38
NC_000010.10:g.124221594G= , CM000672.1:g.124221594G= GRCh37
NC_000010.9:g.124211584G= NCBI36
NG_011554.1:g.5554G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.426G= MANE Select ENSP00000357980.3:p.Leu142=
ENST00000648167.1:c.154+3369G= ENSP00000498033.1:n.154+3369G=
ENST00000368984.7:c.426G= ENSP00000357980.3:p.Leu142=
NM_002775.4:c.426G= NP_002766.1:p.Leu142=
NM_002775.5:c.426G= MANE Select NP_002766.1:p.Leu142=
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