Canonical Allele Identifier: CA4968137
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs745786959
gnomAD v2: 9-4117863-C-T
gnomAD v3: 9-4117863-C-T
gnomAD v4: 9-4117863-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4117863C>T , CM000671.2:g.4117863C>T GRCh38
NC_000009.11:g.4117863C>T , CM000671.1:g.4117863C>T GRCh37
NC_000009.10:g.4107863C>T NCBI36
NG_011782.1:g.187173G>A
NG_011782.2:g.187173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000491889.6:c.*978G>A ENSP00000419914.1:n.*978G>A
ENST00000645252.2:n.152+33077G>A
ENST00000682749.1:c.1150G>A ENSP00000507306.1:p.Ala384Thr
ENST00000682846.1:c.131+7871G>A ENSP00000507527.1:n.131+7871G>A
ENST00000381971.8:c.1615G>A MANE Select ENSP00000371398.3:p.Ala539Thr
ENST00000645252.1:n.152+33077G>A
ENST00000324333.14:c.1150G>A ENSP00000325494.10:p.Ala384Thr
ENST00000381971.7:c.1615G>A ENSP00000371398.3:p.Ala539Thr
ENST00000467497.6:n.155G>A
NM_001042413.1:c.1615G>A NP_001035878.1:p.Ala539Thr
NM_152629.3:c.1150G>A NP_689842.3:p.Ala384Thr
XM_005251386.3:c.1150G>A XP_005251443.1:p.Ala384Thr
XM_005251387.3:c.949G>A XP_005251444.1:p.Ala317Thr
XM_005251388.3:c.949G>A XP_005251445.1:p.Ala317Thr
XM_005251389.3:c.1615G>A XP_005251446.1:p.Ala539Thr
XM_006716731.2:c.1615G>A XP_006716794.1:p.Ala539Thr
XM_011517763.1:c.1615G>A XP_011516065.1:p.Ala539Thr
XM_011517764.1:c.1615G>A XP_011516066.1:p.Ala539Thr
XM_011517765.1:c.1615G>A XP_011516067.1:p.Ala539Thr
XM_011517766.1:c.1150G>A XP_011516068.1:p.Ala384Thr
XM_011517767.1:c.949G>A XP_011516069.1:p.Ala317Thr
XM_011517768.1:c.1615G>A XP_011516070.1:p.Ala539Thr
XM_011517769.1:c.1615G>A XP_011516071.1:p.Ala539Thr
XR_929206.1:n.2381G>A
XM_005251386.4:c.1150G>A XP_005251443.1:p.Ala384Thr
XM_005251387.4:c.949G>A XP_005251444.1:p.Ala317Thr
XM_005251388.4:c.949G>A XP_005251445.1:p.Ala317Thr
XM_005251389.5:c.1615G>A XP_005251446.1:p.Ala539Thr
XM_006716731.3:c.1615G>A XP_006716794.1:p.Ala539Thr
XM_011517763.2:c.1615G>A XP_011516065.1:p.Ala539Thr
XM_011517764.2:c.1615G>A XP_011516066.1:p.Ala539Thr
XM_011517765.2:c.1615G>A XP_011516067.1:p.Ala539Thr
XM_011517766.2:c.1150G>A XP_011516068.1:p.Ala384Thr
XM_011517767.3:c.949G>A XP_011516069.1:p.Ala317Thr
XM_011517769.2:c.1615G>A XP_011516071.1:p.Ala539Thr
XM_017014361.1:c.1150G>A XP_016869850.1:p.Ala384Thr
XR_929206.2:n.2377G>A
NM_001042413.2:c.1615G>A MANE Select NP_001035878.1:p.Ala539Thr
NM_152629.4:c.1150G>A NP_689842.3:p.Ala384Thr