Canonical Allele Identifier: CA378585369
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506731T>C , CM000672.2:g.122506731T>C GRCh38
NC_000010.10:g.124266247T>C , CM000672.1:g.124266247T>C GRCh37
NC_000010.9:g.124256237T>C NCBI36
NG_011554.1:g.50207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.818T>C MANE Select ENSP00000357980.3:p.Leu273Pro
ENST00000648167.1:c.500T>C ENSP00000498033.1:p.Leu167Pro
ENST00000368984.7:c.818T>C ENSP00000357980.3:p.Leu273Pro
ENST00000420892.1:c.41T>C ENSP00000412676.1:p.Leu14Pro
NM_002775.4:c.818T>C NP_002766.1:p.Leu273Pro
NM_002775.5:c.818T>C MANE Select NP_002766.1:p.Leu273Pro