Canonical Allele Identifier: CA2789780263
Gene: HTRA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472315A>C , CM000672.2:g.122472315A>C GRCh38
NC_000010.10:g.124231831A>C , CM000672.1:g.124231831A>C GRCh37
NC_000010.9:g.124221821A>C NCBI36
NG_011554.1:g.15791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10191A>C MANE Select ENSP00000357980.3:n.472+10191A>C
ENST00000648167.1:c.154+13606A>C ENSP00000498033.1:n.154+13606A>C
ENST00000368984.7:c.472+10191A>C ENSP00000357980.3:n.472+10191A>C
NM_002775.4:c.472+10191A>C NP_002766.1:n.472+10191A>C
NM_002775.5:c.472+10191A>C MANE Select NP_002766.1:n.472+10191A>C
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