Canonical Allele Identifier: CA378586476
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508686A>G , CM000672.2:g.122508686A>G GRCh38
NC_000010.10:g.124268202A>G , CM000672.1:g.124268202A>G GRCh37
NC_000010.9:g.124258192A>G NCBI36
NG_011554.1:g.52162A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1036A>G MANE Select ENSP00000357980.3:p.Lys346Glu
ENST00000648167.1:c.718A>G ENSP00000498033.1:p.Lys240Glu
ENST00000368984.7:c.1036A>G ENSP00000357980.3:p.Lys346Glu
ENST00000420892.1:c.259A>G ENSP00000412676.1:p.Lys87Glu
NM_002775.4:c.1036A>G NP_002766.1:p.Lys346Glu
NM_002775.5:c.1036A>G MANE Select NP_002766.1:p.Lys346Glu