Canonical Allele Identifier: CA378586838
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097504274

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508738T>C , CM000672.2:g.122508738T>C GRCh38
NC_000010.10:g.124268254T>C , CM000672.1:g.124268254T>C GRCh37
NC_000010.9:g.124258244T>C NCBI36
NG_011554.1:g.52214T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1088T>C MANE Select ENSP00000357980.3:p.Phe363Ser
ENST00000648167.1:c.770T>C ENSP00000498033.1:p.Phe257Ser
ENST00000368984.7:c.1088T>C ENSP00000357980.3:p.Phe363Ser
ENST00000420892.1:c.311T>C ENSP00000412676.1:p.Phe104Ser
NM_002775.4:c.1088T>C NP_002766.1:p.Phe363Ser
NM_002775.5:c.1088T>C MANE Select NP_002766.1:p.Phe363Ser