Canonical Allele Identifier: CA378605950
Gene: HTRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 978704
ClinVar RCV Id: RCV001293044
dbSNP Id: rs2097481554
gnomAD v4: 10-122461887-C-T
MyVariant Identifiers: chr10:g.124221403C>T (hg19) chr10:g.122461887C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461887C>T , CM000672.2:g.122461887C>T GRCh38
NC_000010.10:g.124221403C>T , CM000672.1:g.124221403C>T GRCh37
NC_000010.9:g.124211393C>T NCBI36
NG_011554.1:g.5363C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.235C>T MANE Select ENSP00000357980.3:p.Gln79Ter
ENST00000648167.1:c.154+3178C>T ENSP00000498033.1:n.154+3178C>T
ENST00000368984.7:c.235C>T ENSP00000357980.3:p.Gln79Ter
NM_002775.4:c.235C>T NP_002766.1:p.Gln79Ter
NM_002775.5:c.235C>T MANE Select NP_002766.1:p.Gln79Ter
Search 100 bp 5'
Search 100 bp 3'