Canonical Allele Identifier: CA378585391
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506737C>G , CM000672.2:g.122506737C>G GRCh38
NC_000010.10:g.124266253C>G , CM000672.1:g.124266253C>G GRCh37
NC_000010.9:g.124256243C>G NCBI36
NG_011554.1:g.50213C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.824C>G MANE Select ENSP00000357980.3:p.Pro275Arg
ENST00000648167.1:c.506C>G ENSP00000498033.1:p.Pro169Arg
ENST00000368984.7:c.824C>G ENSP00000357980.3:p.Pro275Arg
ENST00000420892.1:c.47C>G ENSP00000412676.1:p.Pro16Arg
NM_002775.4:c.824C>G NP_002766.1:p.Pro275Arg
NM_002775.5:c.824C>G MANE Select NP_002766.1:p.Pro275Arg