Canonical Allele Identifier: CA2789780274
Gene: HTRA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122472374A>C , CM000672.2:g.122472374A>C GRCh38
NC_000010.10:g.124231890A>C , CM000672.1:g.124231890A>C GRCh37
NC_000010.9:g.124221880A>C NCBI36
NG_011554.1:g.15850A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.472+10250A>C MANE Select ENSP00000357980.3:n.472+10250A>C
ENST00000648167.1:c.154+13665A>C ENSP00000498033.1:n.154+13665A>C
ENST00000368984.7:c.472+10250A>C ENSP00000357980.3:n.472+10250A>C
NM_002775.4:c.472+10250A>C NP_002766.1:n.472+10250A>C
NM_002775.5:c.472+10250A>C MANE Select NP_002766.1:n.472+10250A>C