Canonical Allele Identifier: CA378605775
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461844C>G , CM000672.2:g.122461844C>G GRCh38
NC_000010.10:g.124221360C>G , CM000672.1:g.124221360C>G GRCh37
NC_000010.9:g.124211350C>G NCBI36
NG_011554.1:g.5320C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.192C>G MANE Select ENSP00000357980.3:p.Cys64Trp
ENST00000648167.1:c.154+3135C>G ENSP00000498033.1:n.154+3135C>G
ENST00000368984.7:c.192C>G ENSP00000357980.3:p.Cys64Trp
NM_002775.4:c.192C>G NP_002766.1:p.Cys64Trp
NM_002775.5:c.192C>G MANE Select NP_002766.1:p.Cys64Trp