Canonical Allele Identifier: CA378606396
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1364495800
gnomAD v2: 10-124221593-T-C
gnomAD v4: 10-122462077-T-C
MyVariant Identifiers: chr10:g.124221593T>C (hg19) chr10:g.122462077T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462077T>C , CM000672.2:g.122462077T>C GRCh38
NC_000010.10:g.124221593T>C , CM000672.1:g.124221593T>C GRCh37
NC_000010.9:g.124211583T>C NCBI36
NG_011554.1:g.5553T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.425T>C MANE Select ENSP00000357980.3:p.Leu142Pro
ENST00000648167.1:c.154+3368T>C ENSP00000498033.1:n.154+3368T>C
ENST00000368984.7:c.425T>C ENSP00000357980.3:p.Leu142Pro
NM_002775.4:c.425T>C NP_002766.1:p.Leu142Pro
NM_002775.5:c.425T>C MANE Select NP_002766.1:p.Leu142Pro
Search 100 bp 5'
Search 100 bp 3'