Canonical Allele Identifier: CA378586932
Gene: HTRA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508762A>T , CM000672.2:g.122508762A>T GRCh38
NC_000010.10:g.124268278A>T , CM000672.1:g.124268278A>T GRCh37
NC_000010.9:g.124258268A>T NCBI36
NG_011554.1:g.52238A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1112A>T MANE Select ENSP00000357980.3:p.Gln371Leu
ENST00000648167.1:c.794A>T ENSP00000498033.1:p.Gln265Leu
ENST00000368984.7:c.1112A>T ENSP00000357980.3:p.Gln371Leu
ENST00000420892.1:c.335A>T ENSP00000412676.1:p.Gln112Leu
NM_002775.4:c.1112A>T NP_002766.1:p.Gln371Leu
NM_002775.5:c.1112A>T MANE Select NP_002766.1:p.Gln371Leu