Canonical Allele Identifier: CA378585816
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506857A>C , CM000672.2:g.122506857A>C GRCh38
NC_000010.10:g.124266373A>C , CM000672.1:g.124266373A>C GRCh37
NC_000010.9:g.124256363A>C NCBI36
NG_011554.1:g.50333A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.944A>C MANE Select ENSP00000357980.3:p.Asp315Ala
ENST00000648167.1:c.626A>C ENSP00000498033.1:p.Asp209Ala
ENST00000368984.7:c.944A>C ENSP00000357980.3:p.Asp315Ala
ENST00000420892.1:c.167A>C ENSP00000412676.1:p.Asp56Ala
NM_002775.4:c.944A>C NP_002766.1:p.Asp315Ala
NM_002775.5:c.944A>C MANE Select NP_002766.1:p.Asp315Ala