Canonical Allele Identifier: CA378585279
Gene: HTRA1 HGNC NCBI

Linked Data

COSMIC: COSM4444296
MyVariant Identifiers: chr10:g.124266228C>A (hg19) chr10:g.122506712C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506712C>A , CM000672.2:g.122506712C>A GRCh38
NC_000010.10:g.124266228C>A , CM000672.1:g.124266228C>A GRCh37
NC_000010.9:g.124256218C>A NCBI36
NG_011554.1:g.50188C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.799C>A MANE Select ENSP00000357980.3:p.Leu267Ile
ENST00000648167.1:c.481C>A ENSP00000498033.1:p.Leu161Ile
ENST00000368984.7:c.799C>A ENSP00000357980.3:p.Leu267Ile
ENST00000420892.1:c.22C>A ENSP00000412676.1:p.Leu8Ile
NM_002775.4:c.799C>A NP_002766.1:p.Leu267Ile
NM_002775.5:c.799C>A MANE Select NP_002766.1:p.Leu267Ile
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