Canonical Allele Identifier: CA214389879
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs976271934
gnomAD v2: 10-124231894-T-C
gnomAD v3: 10-122472378-T-C
gnomAD v4: 10-122472378-T-C
MyVariant Identifiers: chr10:g.124231894T>C (hg19) chr10:g.122472378T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472378T>C , CM000672.2:g.122472378T>C GRCh38
NC_000010.10:g.124231894T>C , CM000672.1:g.124231894T>C GRCh37
NC_000010.9:g.124221884T>C NCBI36
NG_011554.1:g.15854T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10254T>C MANE Select ENSP00000357980.3:n.472+10254T>C
ENST00000648167.1:c.154+13669T>C ENSP00000498033.1:n.154+13669T>C
ENST00000368984.7:c.472+10254T>C ENSP00000357980.3:n.472+10254T>C
NM_002775.4:c.472+10254T>C NP_002766.1:n.472+10254T>C
NM_002775.5:c.472+10254T>C MANE Select NP_002766.1:n.472+10254T>C
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