Canonical Allele Identifier: CA378586954
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1290946745
gnomAD v2: 10-124268281-C-T
gnomAD v4: 10-122508765-C-T
MyVariant Identifiers: chr10:g.124268281C>T (hg19) chr10:g.122508765C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508765C>T , CM000672.2:g.122508765C>T GRCh38
NC_000010.10:g.124268281C>T , CM000672.1:g.124268281C>T GRCh37
NC_000010.9:g.124258271C>T NCBI36
NG_011554.1:g.52241C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.1115C>T MANE Select ENSP00000357980.3:p.Ala372Val
ENST00000648167.1:c.797C>T ENSP00000498033.1:p.Ala266Val
ENST00000368984.7:c.1115C>T ENSP00000357980.3:p.Ala372Val
ENST00000420892.1:c.338C>T ENSP00000412676.1:p.Ala113Val
NM_002775.4:c.1115C>T NP_002766.1:p.Ala372Val
NM_002775.5:c.1115C>T MANE Select NP_002766.1:p.Ala372Val
Search 100 bp 5'
Search 100 bp 3'