Canonical Allele Identifier: CA1829088798
Community Standard Title: NM_001042413.2(GLIS3):c.1608C= (p.Cys536=)
Gene: GLIS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4117870G= , CM000671.2:g.4117870G= GRCh38
NC_000009.11:g.4117870G= , CM000671.1:g.4117870G= GRCh37
NC_000009.10:g.4107870G= NCBI36
NG_011782.1:g.187166C=
NG_011782.2:g.187166C=

Transcript Alleles

HGVS Amino-acid Change
NM_001042413.2:c.1608C= MANE Select NP_001035878.1:p.Cys536=
ENST00000381971.8:c.1608C= MANE Select ENSP00000371398.3:p.Cys536=
NM_001042413.1:c.1608C= NP_001035878.1:p.Cys536=
NM_152629.3:c.1143C= NP_689842.3:p.Cys381=
NM_152629.4:c.1143C= NP_689842.3:p.Cys381=
ENST00000324333.14:c.1143C= ENSP00000325494.10:p.Cys381=
ENST00000381971.7:c.1608C= ENSP00000371398.3:p.Cys536=
ENST00000467497.6:n.148C=
ENST00000491889.6:c.*971C= ENSP00000419914.1:n.*971C=
ENST00000645252.1:n.152+33070C=
ENST00000645252.2:n.152+33070C=
ENST00000682749.1:c.1143C= ENSP00000507306.1:p.Cys381=
ENST00000682846.1:c.131+7864C= ENSP00000507527.1:n.131+7864C=
XM_005251386.3:c.1143C= XP_005251443.1:p.Cys381=
XM_005251386.4:c.1143C= XP_005251443.1:p.Cys381=
XM_005251387.3:c.942C= XP_005251444.1:p.Cys314=
XM_005251387.4:c.942C= XP_005251444.1:p.Cys314=
XM_005251388.3:c.942C= XP_005251445.1:p.Cys314=
XM_005251388.4:c.942C= XP_005251445.1:p.Cys314=
XM_005251389.3:c.1608C= XP_005251446.1:p.Cys536=
XM_005251389.5:c.1608C= XP_005251446.1:p.Cys536=
XM_006716731.2:c.1608C= XP_006716794.1:p.Cys536=
XM_006716731.3:c.1608C= XP_006716794.1:p.Cys536=
XM_011517763.1:c.1608C= XP_011516065.1:p.Cys536=
XM_011517763.2:c.1608C= XP_011516065.1:p.Cys536=
XM_011517764.1:c.1608C= XP_011516066.1:p.Cys536=
XM_011517764.2:c.1608C= XP_011516066.1:p.Cys536=
XM_011517765.1:c.1608C= XP_011516067.1:p.Cys536=
XM_011517765.2:c.1608C= XP_011516067.1:p.Cys536=
XM_011517766.1:c.1143C= XP_011516068.1:p.Cys381=
XM_011517766.2:c.1143C= XP_011516068.1:p.Cys381=
XM_011517767.1:c.942C= XP_011516069.1:p.Cys314=
XM_011517767.3:c.942C= XP_011516069.1:p.Cys314=
XM_011517768.1:c.1608C= XP_011516070.1:p.Cys536=
XM_011517769.1:c.1608C= XP_011516071.1:p.Cys536=
XM_011517769.2:c.1608C= XP_011516071.1:p.Cys536=
XM_017014361.1:c.1143C= XP_016869850.1:p.Cys381=
XR_929206.1:n.2374C=
XR_929206.2:n.2370C=