Canonical Allele Identifier: CA2338594299
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766518T= , CM000681.2:g.45766518T= GRCh38
NC_000019.9:g.46269776T= , CM000681.1:g.46269776T= GRCh37
NC_000019.8:g.50961616T= NCBI36
NG_012745.1:g.7722A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1441A= MANE Select ENSP00000316842.4:p.Thr481=
ENST00000317578.6:c.1441A= ENSP00000316842.4:p.Thr481=
ENST00000560160.1:c.587-407A=
ENST00000560168.1:c.*629A= ENSP00000453189.2:n.*629A=
ENST00000622857.1:c.16-556A= ENSP00000481365.1:n.16-556A=
NM_175875.4:c.1441A= NP_787071.2:p.Thr481=
NM_175875.5:c.1441A= MANE Select NP_787071.3:p.Thr481=