Canonical Allele Identifier: CA378606044
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3236343
ClinVar RCV Id: RCV004555719
MyVariant Identifiers: chr10:g.124221428T>G (hg19) chr10:g.122461912T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461912T>G , CM000672.2:g.122461912T>G GRCh38
NC_000010.10:g.124221428T>G , CM000672.1:g.124221428T>G GRCh37
NC_000010.9:g.124211418T>G NCBI36
NG_011554.1:g.5388T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.260T>G MANE Select ENSP00000357980.3:p.Leu87Arg
ENST00000648167.1:c.154+3203T>G ENSP00000498033.1:n.154+3203T>G
ENST00000368984.7:c.260T>G ENSP00000357980.3:p.Leu87Arg
NM_002775.4:c.260T>G NP_002766.1:p.Leu87Arg
NM_002775.5:c.260T>G MANE Select NP_002766.1:p.Leu87Arg
Search 100 bp 5'
Search 100 bp 3'