Canonical Allele Identifier: CA9520725
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2191559
dbSNP Id: rs751921163

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767040C>T , CM000681.2:g.45767040C>T GRCh38
NC_000019.9:g.46270298C>T , CM000681.1:g.46270298C>T GRCh37
NC_000019.8:g.50962138C>T NCBI36
NG_012745.1:g.7200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.919G>A MANE Select ENSP00000316842.4:p.Ala307Thr
ENST00000317578.6:c.919G>A ENSP00000316842.4:p.Ala307Thr
ENST00000560160.1:c.587-929G>A
ENST00000560168.1:c.*107G>A ENSP00000453189.2:n.*107G>A
ENST00000622857.1:c.16-1078G>A ENSP00000481365.1:n.16-1078G>A
NM_175875.4:c.919G>A NP_787071.2:p.Ala307Thr
NM_175875.5:c.919G>A MANE Select NP_787071.3:p.Ala307Thr