Canonical Allele Identifier: CA596578957
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1427502522
gnomAD v2: 10-124221082-GC-G
gnomAD v4: 10-122461566-GC-G
MyVariant Identifiers: chr10:g.124221083del (hg19) chr10:g.122461567del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461571del , CM000672.2:g.122461571del GRCh38
NC_000010.10:g.124221087del , CM000672.1:g.124221087del GRCh37
NC_000010.9:g.124211077del NCBI36
NG_011554.1:g.5047del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.-82del MANE Select ENSP00000357980.3:n.-82del
ENST00000648167.1:c.154+2862del ENSP00000498033.1:n.154+2862del
ENST00000368984.7:c.-82del ENSP00000357980.3:n.-82del
NM_002775.4:c.-82del NP_002766.1:n.-82del
NM_002775.5:c.-82del MANE Select NP_002766.1:n.-82del
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