Canonical Allele Identifier: CA214405502
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1009366483
gnomAD v3: 10-122496914-T-C
gnomAD v4: 10-122496914-T-C
MyVariant Identifiers: chr10:g.124256430T>C (hg19) chr10:g.122496914T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122496914T>C , CM000672.2:g.122496914T>C GRCh38
NC_000010.10:g.124256430T>C , CM000672.1:g.124256430T>C GRCh37
NC_000010.9:g.124246420T>C NCBI36
NG_011554.1:g.40390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.777+7288T>C MANE Select ENSP00000357980.3:n.777+7288T>C
ENST00000648167.1:c.459+7288T>C ENSP00000498033.1:n.459+7288T>C
ENST00000368984.7:c.777+7288T>C ENSP00000357980.3:n.777+7288T>C
NM_002775.4:c.777+7288T>C NP_002766.1:n.777+7288T>C
NM_002775.5:c.777+7288T>C MANE Select NP_002766.1:n.777+7288T>C
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