Canonical Allele Identifier: CA596374929
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs1406238272
gnomAD v2: 10-124231510-C-T
gnomAD v3: 10-122471994-C-T
gnomAD v4: 10-122471994-C-T
MyVariant Identifiers: chr10:g.124231510C>T (hg19) chr10:g.122471994C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122471994C>T , CM000672.2:g.122471994C>T GRCh38
NC_000010.10:g.124231510C>T , CM000672.1:g.124231510C>T GRCh37
NC_000010.9:g.124221500C>T NCBI36
NG_011554.1:g.15470C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.472+9870C>T MANE Select ENSP00000357980.3:n.472+9870C>T
ENST00000648167.1:c.154+13285C>T ENSP00000498033.1:n.154+13285C>T
ENST00000368984.7:c.472+9870C>T ENSP00000357980.3:n.472+9870C>T
NM_002775.4:c.472+9870C>T NP_002766.1:n.472+9870C>T
NM_002775.5:c.472+9870C>T MANE Select NP_002766.1:n.472+9870C>T
Search 100 bp 5'
Search 100 bp 3'