Canonical Allele Identifier: CA2338594328
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766569T= , CM000681.2:g.45766569T= GRCh38
NC_000019.9:g.46269827T= , CM000681.1:g.46269827T= GRCh37
NC_000019.8:g.50961667T= NCBI36
NG_012745.1:g.7671A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1390A= MANE Select ENSP00000316842.4:p.Thr464=
ENST00000317578.6:c.1390A= ENSP00000316842.4:p.Thr464=
ENST00000560160.1:c.587-458A=
ENST00000560168.1:c.*578A= ENSP00000453189.2:n.*578A=
ENST00000622857.1:c.16-607A= ENSP00000481365.1:n.16-607A=
NM_175875.4:c.1390A= NP_787071.2:p.Thr464=
NM_175875.5:c.1390A= MANE Select NP_787071.3:p.Thr464=