Canonical Allele Identifier: CA378585208
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124266214T>A (hg19) chr10:g.122506698T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506698T>A , CM000672.2:g.122506698T>A GRCh38
NC_000010.10:g.124266214T>A , CM000672.1:g.124266214T>A GRCh37
NC_000010.9:g.124256204T>A NCBI36
NG_011554.1:g.50174T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.785T>A MANE Select ENSP00000357980.3:p.Leu262Gln
ENST00000648167.1:c.467T>A ENSP00000498033.1:p.Leu156Gln
ENST00000368984.7:c.785T>A ENSP00000357980.3:p.Leu262Gln
ENST00000420892.1:c.8T>A ENSP00000412676.1:p.Leu3Gln
NM_002775.4:c.785T>A NP_002766.1:p.Leu262Gln
NM_002775.5:c.785T>A MANE Select NP_002766.1:p.Leu262Gln
Search 100 bp 5'
Search 100 bp 3'