Canonical Allele Identifier: CA378586545
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097504264
gnomAD v4: 10-122508696-C-T
MyVariant Identifiers: chr10:g.124268212C>T (hg19) chr10:g.122508696C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508696C>T , CM000672.2:g.122508696C>T GRCh38
NC_000010.10:g.124268212C>T , CM000672.1:g.124268212C>T GRCh37
NC_000010.9:g.124258202C>T NCBI36
NG_011554.1:g.52172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1046C>T MANE Select ENSP00000357980.3:p.Ala349Val
ENST00000648167.1:c.728C>T ENSP00000498033.1:p.Ala243Val
ENST00000368984.7:c.1046C>T ENSP00000357980.3:p.Ala349Val
ENST00000420892.1:c.269C>T ENSP00000412676.1:p.Ala90Val
NM_002775.4:c.1046C>T NP_002766.1:p.Ala349Val
NM_002775.5:c.1046C>T MANE Select NP_002766.1:p.Ala349Val
Search 100 bp 5'
Search 100 bp 3'