Canonical Allele Identifier: CA5725806
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs767295649
ExAC: 10:124221558 C / T
gnomAD v2: 10-124221558-C-T
gnomAD v4: 10-122462042-C-T
MyVariant Identifiers: chr10:g.124221558C>T (hg19) chr10:g.122462042C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462042C>T , CM000672.2:g.122462042C>T GRCh38
NC_000010.10:g.124221558C>T , CM000672.1:g.124221558C>T GRCh37
NC_000010.9:g.124211548C>T NCBI36
NG_011554.1:g.5518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.390C>T MANE Select ENSP00000357980.3:p.Cys130=
ENST00000648167.1:c.154+3333C>T ENSP00000498033.1:n.154+3333C>T
ENST00000368984.7:c.390C>T ENSP00000357980.3:p.Cys130=
NM_002775.4:c.390C>T NP_002766.1:p.Cys130=
NM_002775.5:c.390C>T MANE Select NP_002766.1:p.Cys130=
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