Canonical Allele Identifier: CA406417913
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766503T>G , CM000681.2:g.45766503T>G GRCh38
NC_000019.9:g.46269761T>G , CM000681.1:g.46269761T>G GRCh37
NC_000019.8:g.50961601T>G NCBI36
NG_012745.1:g.7737A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1456A>C MANE Select ENSP00000316842.4:p.Thr486Pro
ENST00000317578.6:c.1456A>C ENSP00000316842.4:p.Thr486Pro
ENST00000560160.1:c.587-392A>C
ENST00000560168.1:c.*644A>C ENSP00000453189.2:n.*644A>C
ENST00000622857.1:c.16-541A>C ENSP00000481365.1:n.16-541A>C
NM_175875.4:c.1456A>C NP_787071.2:p.Thr486Pro
NM_175875.5:c.1456A>C MANE Select NP_787071.3:p.Thr486Pro