Canonical Allele Identifier: CA2523818738
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472153T>G , CM000672.2:g.122472153T>G GRCh38
NC_000010.10:g.124231669T>G , CM000672.1:g.124231669T>G GRCh37
NC_000010.9:g.124221659T>G NCBI36
NG_011554.1:g.15629T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10029T>G MANE Select ENSP00000357980.3:n.472+10029T>G
ENST00000648167.1:c.154+13444T>G ENSP00000498033.1:n.154+13444T>G
ENST00000368984.7:c.472+10029T>G ENSP00000357980.3:n.472+10029T>G
NM_002775.4:c.472+10029T>G NP_002766.1:n.472+10029T>G
NM_002775.5:c.472+10029T>G MANE Select NP_002766.1:n.472+10029T>G