Canonical Allele Identifier: CA378581094
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122489505C>G , CM000672.2:g.122489505C>G GRCh38
NC_000010.10:g.124249021C>G , CM000672.1:g.124249021C>G GRCh37
NC_000010.9:g.124239011C>G NCBI36
NG_011554.1:g.32981C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.656C>G MANE Select ENSP00000357980.3:p.Ala219Gly
ENST00000648167.1:c.338C>G ENSP00000498033.1:p.Ala113Gly
ENST00000368984.7:c.656C>G ENSP00000357980.3:p.Ala219Gly
NM_002775.4:c.656C>G NP_002766.1:p.Ala219Gly
NM_002775.5:c.656C>G MANE Select NP_002766.1:p.Ala219Gly