Canonical Allele Identifier: CA1941460029
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462096C= , CM000672.2:g.122462096C= GRCh38
NC_000010.10:g.124221612C= , CM000672.1:g.124221612C= GRCh37
NC_000010.9:g.124211602C= NCBI36
NG_011554.1:g.5572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.444C= MANE Select ENSP00000357980.3:p.Ile148=
ENST00000648167.1:c.154+3387C= ENSP00000498033.1:n.154+3387C=
ENST00000368984.7:c.444C= ENSP00000357980.3:p.Ile148=
NM_002775.4:c.444C= NP_002766.1:p.Ile148=
NM_002775.5:c.444C= MANE Select NP_002766.1:p.Ile148=
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