Canonical Allele Identifier: CA378585677
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506803T>G , CM000672.2:g.122506803T>G GRCh38
NC_000010.10:g.124266319T>G , CM000672.1:g.124266319T>G GRCh37
NC_000010.9:g.124256309T>G NCBI36
NG_011554.1:g.50279T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.890T>G MANE Select ENSP00000357980.3:p.Val297Gly
ENST00000648167.1:c.572T>G ENSP00000498033.1:p.Val191Gly
ENST00000368984.7:c.890T>G ENSP00000357980.3:p.Val297Gly
ENST00000420892.1:c.113T>G ENSP00000412676.1:p.Val38Gly
NM_002775.4:c.890T>G NP_002766.1:p.Val297Gly
NM_002775.5:c.890T>G MANE Select NP_002766.1:p.Val297Gly