Canonical Allele Identifier: CA378585513
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506764G>A , CM000672.2:g.122506764G>A GRCh38
NC_000010.10:g.124266280G>A , CM000672.1:g.124266280G>A GRCh37
NC_000010.9:g.124256270G>A NCBI36
NG_011554.1:g.50240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.851G>A MANE Select ENSP00000357980.3:p.Ser284Asn
ENST00000648167.1:c.533G>A ENSP00000498033.1:p.Ser178Asn
ENST00000368984.7:c.851G>A ENSP00000357980.3:p.Ser284Asn
ENST00000420892.1:c.74G>A ENSP00000412676.1:p.Ser25Asn
NM_002775.4:c.851G>A NP_002766.1:p.Ser284Asn
NM_002775.5:c.851G>A MANE Select NP_002766.1:p.Ser284Asn