Canonical Allele Identifier: CA378606323
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1356256063
gnomAD v2: 10-124221559-C-A
gnomAD v4: 10-122462043-C-A
MyVariant Identifiers: chr10:g.124221559C>A (hg19) chr10:g.122462043C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462043C>A , CM000672.2:g.122462043C>A GRCh38
NC_000010.10:g.124221559C>A , CM000672.1:g.124221559C>A GRCh37
NC_000010.9:g.124211549C>A NCBI36
NG_011554.1:g.5519C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.391C>A MANE Select ENSP00000357980.3:p.Gln131Lys
ENST00000648167.1:c.154+3334C>A ENSP00000498033.1:n.154+3334C>A
ENST00000368984.7:c.391C>A ENSP00000357980.3:p.Gln131Lys
NM_002775.4:c.391C>A NP_002766.1:p.Gln131Lys
NM_002775.5:c.391C>A MANE Select NP_002766.1:p.Gln131Lys
Search 100 bp 5'
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