Canonical Allele Identifier: CA2550364248
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472332T>A , CM000672.2:g.122472332T>A GRCh38
NC_000010.10:g.124231848T>A , CM000672.1:g.124231848T>A GRCh37
NC_000010.9:g.124221838T>A NCBI36
NG_011554.1:g.15808T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10208T>A MANE Select ENSP00000357980.3:n.472+10208T>A
ENST00000648167.1:c.154+13623T>A ENSP00000498033.1:n.154+13623T>A
ENST00000368984.7:c.472+10208T>A ENSP00000357980.3:n.472+10208T>A
NM_002775.4:c.472+10208T>A NP_002766.1:n.472+10208T>A
NM_002775.5:c.472+10208T>A MANE Select NP_002766.1:n.472+10208T>A
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