Canonical Allele Identifier: CA10586165
Gene: GLIS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 253043
ClinVar RCV Id: RCV000239543
dbSNP Id: rs879255608

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000491889.6:c.*971C>G ENSP00000419914.1:n.*971C>G
ENST00000645252.2:n.152+33070C>G
ENST00000682749.1:c.1143C>G ENSP00000507306.1:p.Cys381Trp
ENST00000682846.1:c.131+7864C>G ENSP00000507527.1:n.131+7864C>G
ENST00000381971.8:c.1608C>G MANE Select ENSP00000371398.3:p.Cys536Trp
ENST00000645252.1:n.152+33070C>G
ENST00000324333.14:c.1143C>G ENSP00000325494.10:p.Cys381Trp
ENST00000381971.7:c.1608C>G ENSP00000371398.3:p.Cys536Trp
ENST00000467497.6:n.148C>G
NM_001042413.1:c.1608C>G NP_001035878.1:p.Cys536Trp
NM_152629.3:c.1143C>G NP_689842.3:p.Cys381Trp
XM_005251386.3:c.1143C>G XP_005251443.1:p.Cys381Trp
XM_005251387.3:c.942C>G XP_005251444.1:p.Cys314Trp
XM_005251388.3:c.942C>G XP_005251445.1:p.Cys314Trp
XM_005251389.3:c.1608C>G XP_005251446.1:p.Cys536Trp
XM_006716731.2:c.1608C>G XP_006716794.1:p.Cys536Trp
XM_011517763.1:c.1608C>G XP_011516065.1:p.Cys536Trp
XM_011517764.1:c.1608C>G XP_011516066.1:p.Cys536Trp
XM_011517765.1:c.1608C>G XP_011516067.1:p.Cys536Trp
XM_011517766.1:c.1143C>G XP_011516068.1:p.Cys381Trp
XM_011517767.1:c.942C>G XP_011516069.1:p.Cys314Trp
XM_011517768.1:c.1608C>G XP_011516070.1:p.Cys536Trp
XM_011517769.1:c.1608C>G XP_011516071.1:p.Cys536Trp
XR_929206.1:n.2374C>G
XM_005251386.4:c.1143C>G XP_005251443.1:p.Cys381Trp
XM_005251387.4:c.942C>G XP_005251444.1:p.Cys314Trp
XM_005251388.4:c.942C>G XP_005251445.1:p.Cys314Trp
XM_005251389.5:c.1608C>G XP_005251446.1:p.Cys536Trp
XM_006716731.3:c.1608C>G XP_006716794.1:p.Cys536Trp
XM_011517763.2:c.1608C>G XP_011516065.1:p.Cys536Trp
XM_011517764.2:c.1608C>G XP_011516066.1:p.Cys536Trp
XM_011517765.2:c.1608C>G XP_011516067.1:p.Cys536Trp
XM_011517766.2:c.1143C>G XP_011516068.1:p.Cys381Trp
XM_011517767.3:c.942C>G XP_011516069.1:p.Cys314Trp
XM_011517769.2:c.1608C>G XP_011516071.1:p.Cys536Trp
XM_017014361.1:c.1143C>G XP_016869850.1:p.Cys381Trp
XR_929206.2:n.2370C>G
NM_001042413.2:c.1608C>G MANE Select NP_001035878.1:p.Cys536Trp
NM_152629.4:c.1143C>G NP_689842.3:p.Cys381Trp