Canonical Allele Identifier: CA406420946
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767028G>T , CM000681.2:g.45767028G>T GRCh38
NC_000019.9:g.46270286G>T , CM000681.1:g.46270286G>T GRCh37
NC_000019.8:g.50962126G>T NCBI36
NG_012745.1:g.7212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.931C>A MANE Select ENSP00000316842.4:p.Pro311Thr
ENST00000317578.6:c.931C>A ENSP00000316842.4:p.Pro311Thr
ENST00000560160.1:c.587-917C>A
ENST00000560168.1:c.*119C>A ENSP00000453189.2:n.*119C>A
ENST00000622857.1:c.16-1066C>A ENSP00000481365.1:n.16-1066C>A
NM_175875.4:c.931C>A NP_787071.2:p.Pro311Thr
NM_175875.5:c.931C>A MANE Select NP_787071.3:p.Pro311Thr