Canonical Allele Identifier: CA12978500
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs514716

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3929424C>T , CM000671.2:g.3929424C>T GRCh38
NC_000009.11:g.3929424C>T , CM000671.1:g.3929424C>T GRCh37
NC_000009.10:g.3919424C>T NCBI36
NG_011782.1:g.375612G>A
NG_011782.2:g.375612G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000463680.6:n.273+2936G>A
ENST00000464391.2:n.541+2936G>A
ENST00000491889.6:c.*1346+2936G>A ENSP00000419914.1:p.=
ENST00000645252.2:n.425+2936G>A
ENST00000682749.1:c.1518+2936G>A ENSP00000507306.1:p.=
ENST00000682846.1:c.132-99932G>A ENSP00000507527.1:p.=
ENST00000682864.1:n.482+2936G>A
ENST00000381971.8:c.1983+2936G>A MANE Select ENSP00000371398.3:p.=
ENST00000645252.1:n.425+2936G>A
ENST00000324333.14:c.1518+2936G>A ENSP00000325494.10:p.=
ENST00000381971.7:c.1983+2936G>A ENSP00000371398.3:p.=
ENST00000461870.5:n.339+2936G>A
ENST00000463680.5:n.273+2936G>A
ENST00000467497.6:n.523+2936G>A
NM_001042413.1:c.1983+2936G>A NP_001035878.1:p.=
NM_152629.3:c.1518+2936G>A NP_689842.3:p.=
XM_005251386.3:c.1518+2936G>A XP_005251443.1:p.=
XM_005251387.3:c.1317+2936G>A XP_005251444.1:p.=
XM_005251388.3:c.1317+2936G>A XP_005251445.1:p.=
XM_011517763.1:c.1983+2936G>A XP_011516065.1:p.=
XM_011517764.1:c.1983+2936G>A XP_011516066.1:p.=
XM_011517765.1:c.1983+2936G>A XP_011516067.1:p.=
XM_011517766.1:c.1518+2936G>A XP_011516068.1:p.=
XM_011517767.1:c.1317+2936G>A XP_011516069.1:p.=
XM_005251386.4:c.1518+2936G>A XP_005251443.1:p.=
XM_005251387.4:c.1317+2936G>A XP_005251444.1:p.=
XM_005251388.4:c.1317+2936G>A XP_005251445.1:p.=
XM_011517763.2:c.1983+2936G>A XP_011516065.1:p.=
XM_011517764.2:c.1983+2936G>A XP_011516066.1:p.=
XM_011517765.2:c.1983+2936G>A XP_011516067.1:p.=
XM_011517766.2:c.1518+2936G>A XP_011516068.1:p.=
XM_011517767.3:c.1317+2936G>A XP_011516069.1:p.=
XM_017014361.1:c.1518+2936G>A XP_016869850.1:p.=
NM_001042413.2:c.1983+2936G>A MANE Select NP_001035878.1:p.=
NM_152629.4:c.1518+2936G>A NP_689842.3:p.=