Canonical Allele Identifier: CA214389411
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs944921639
gnomAD v3: 10-122471912-C-T
gnomAD v4: 10-122471912-C-T
COSMIC: COSN25912679
MyVariant Identifiers: chr10:g.124231428C>T (hg19) chr10:g.122471912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122471912C>T , CM000672.2:g.122471912C>T GRCh38
NC_000010.10:g.124231428C>T , CM000672.1:g.124231428C>T GRCh37
NC_000010.9:g.124221418C>T NCBI36
NG_011554.1:g.15388C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.472+9788C>T MANE Select ENSP00000357980.3:n.472+9788C>T
ENST00000648167.1:c.154+13203C>T ENSP00000498033.1:n.154+13203C>T
ENST00000368984.7:c.472+9788C>T ENSP00000357980.3:n.472+9788C>T
NM_002775.4:c.472+9788C>T NP_002766.1:n.472+9788C>T
NM_002775.5:c.472+9788C>T MANE Select NP_002766.1:n.472+9788C>T
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