Canonical Allele Identifier: CA345925
Gene: HTRA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 156100
ClinVar RCV Id: RCV000144148
dbSNP Id: rs587776446

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506767C>T , CM000672.2:g.122506767C>T GRCh38
NC_000010.10:g.124266283C>T , CM000672.1:g.124266283C>T GRCh37
NC_000010.9:g.124256273C>T NCBI36
NG_011554.1:g.50243C>T

Transcript Alleles

HGVS Amino-acid change
NM_002775.4:c.854C>T VV NP_002766.1:p.Pro285Leu
NM_002775.5:c.854C>T VV MANE Preferred NP_002766.1:p.Pro285Leu
ENST00000368984.7:c.854C>T ENSP00000357980.3:p.Pro285Leu
ENST00000420892.1:n.77C>T ENSP00000412676.1:p.Pro26Leu