Canonical Allele Identifier: CA2338594413
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766701C= , CM000681.2:g.45766701C= GRCh38
NC_000019.9:g.46269959C= , CM000681.1:g.46269959C= GRCh37
NC_000019.8:g.50961799C= NCBI36
NG_012745.1:g.7539G=

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1258G= MANE Select ENSP00000316842.4:p.Glu420=
ENST00000317578.6:c.1258G= ENSP00000316842.4:p.Glu420=
ENST00000560160.1:c.587-590G=
ENST00000560168.1:c.*446G= ENSP00000453189.2:n.*446G=
ENST00000622857.1:c.16-739G= ENSP00000481365.1:n.16-739G=
NM_175875.4:c.1258G= NP_787071.2:p.Glu420=
NM_175875.5:c.1258G= MANE Select NP_787071.3:p.Glu420=