Canonical Allele Identifier: CA378585637
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1378497929
gnomAD v4: 10-122506793-A-G
MyVariant Identifiers: chr10:g.124266309A>G (hg19) chr10:g.122506793A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506793A>G , CM000672.2:g.122506793A>G GRCh38
NC_000010.10:g.124266309A>G , CM000672.1:g.124266309A>G GRCh37
NC_000010.9:g.124256299A>G NCBI36
NG_011554.1:g.50269A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.880A>G MANE Select ENSP00000357980.3:p.Thr294Ala
ENST00000648167.1:c.562A>G ENSP00000498033.1:p.Thr188Ala
ENST00000368984.7:c.880A>G ENSP00000357980.3:p.Thr294Ala
ENST00000420892.1:c.103A>G ENSP00000412676.1:p.Thr35Ala
NM_002775.4:c.880A>G NP_002766.1:p.Thr294Ala
NM_002775.5:c.880A>G MANE Select NP_002766.1:p.Thr294Ala
Search 100 bp 5'
Search 100 bp 3'