Canonical Allele Identifier: CA378586718
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124268241A>C (hg19) chr10:g.122508725A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508725A>C , CM000672.2:g.122508725A>C GRCh38
NC_000010.10:g.124268241A>C , CM000672.1:g.124268241A>C GRCh37
NC_000010.9:g.124258231A>C NCBI36
NG_011554.1:g.52201A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1075A>C MANE Select ENSP00000357980.3:p.Lys359Gln
ENST00000648167.1:c.757A>C ENSP00000498033.1:p.Lys253Gln
ENST00000368984.7:c.1075A>C ENSP00000357980.3:p.Lys359Gln
ENST00000420892.1:c.298A>C ENSP00000412676.1:p.Lys100Gln
NM_002775.4:c.1075A>C NP_002766.1:p.Lys359Gln
NM_002775.5:c.1075A>C MANE Select NP_002766.1:p.Lys359Gln
Search 100 bp 5'
Search 100 bp 3'