Canonical Allele Identifier: CA378606244
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2133905410
gnomAD v4: 10-122462008-G-T
MyVariant Identifiers: chr10:g.124221524G>T (hg19) chr10:g.122462008G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462008G>T , CM000672.2:g.122462008G>T GRCh38
NC_000010.10:g.124221524G>T , CM000672.1:g.124221524G>T GRCh37
NC_000010.9:g.124211514G>T NCBI36
NG_011554.1:g.5484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.356G>T MANE Select ENSP00000357980.3:p.Cys119Phe
ENST00000648167.1:c.154+3299G>T ENSP00000498033.1:n.154+3299G>T
ENST00000368984.7:c.356G>T ENSP00000357980.3:p.Cys119Phe
NM_002775.4:c.356G>T NP_002766.1:p.Cys119Phe
NM_002775.5:c.356G>T MANE Select NP_002766.1:p.Cys119Phe
Search 100 bp 5'
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