Canonical Allele Identifier: CA5726035
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs776517365
ExAC: 10:124268242 A / G
gnomAD v2: 10-124268242-A-G
gnomAD v4: 10-122508726-A-G
MyVariant Identifiers: chr10:g.124268242A>G (hg19) chr10:g.122508726A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508726A>G , CM000672.2:g.122508726A>G GRCh38
NC_000010.10:g.124268242A>G , CM000672.1:g.124268242A>G GRCh37
NC_000010.9:g.124258232A>G NCBI36
NG_011554.1:g.52202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1076A>G MANE Select ENSP00000357980.3:p.Lys359Arg
ENST00000648167.1:c.758A>G ENSP00000498033.1:p.Lys253Arg
ENST00000368984.7:c.1076A>G ENSP00000357980.3:p.Lys359Arg
ENST00000420892.1:c.299A>G ENSP00000412676.1:p.Lys100Arg
NM_002775.4:c.1076A>G NP_002766.1:p.Lys359Arg
NM_002775.5:c.1076A>G MANE Select NP_002766.1:p.Lys359Arg
Search 100 bp 5'
Search 100 bp 3'