Canonical Allele Identifier: CA2338594579
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766979A= , CM000681.2:g.45766979A= GRCh38
NC_000019.9:g.46270237A= , CM000681.1:g.46270237A= GRCh37
NC_000019.8:g.50962077A= NCBI36
NG_012745.1:g.7261T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.980T= MANE Select ENSP00000316842.4:p.Phe327=
ENST00000317578.6:c.980T= ENSP00000316842.4:p.Phe327=
ENST00000560160.1:c.587-868T=
ENST00000560168.1:c.*168T= ENSP00000453189.2:n.*168T=
ENST00000622857.1:c.16-1017T= ENSP00000481365.1:n.16-1017T=
NM_175875.4:c.980T= NP_787071.2:p.Phe327=
NM_175875.5:c.980T= MANE Select NP_787071.3:p.Phe327=
Search 100 bp 5'
Search 100 bp 3'