Canonical Allele Identifier: CA372845431
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3932417A>C , CM000671.2:g.3932417A>C GRCh38
NC_000009.11:g.3932417A>C , CM000671.1:g.3932417A>C GRCh37
NC_000009.10:g.3922417A>C NCBI36
NG_011782.1:g.372619T>G
NG_011782.2:g.372619T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463680.6:n.216T>G
ENST00000464391.2:n.484T>G
ENST00000491889.6:c.*1289T>G ENSP00000419914.1:n.*1289T>G
ENST00000645252.2:n.368T>G
ENST00000682749.1:c.1461T>G ENSP00000507306.1:p.Ser487Arg
ENST00000682846.1:c.132-102925T>G ENSP00000507527.1:n.132-102925T>G
ENST00000682864.1:n.425T>G
ENST00000381971.8:c.1926T>G MANE Select ENSP00000371398.3:p.Ser642Arg
ENST00000645252.1:n.368T>G
ENST00000324333.14:c.1461T>G ENSP00000325494.10:p.Ser487Arg
ENST00000381971.7:c.1926T>G ENSP00000371398.3:p.Ser642Arg
ENST00000461870.5:n.282T>G
ENST00000463680.5:n.216T>G
ENST00000464391.1:n.474T>G
ENST00000467497.6:n.466T>G
NM_001042413.1:c.1926T>G NP_001035878.1:p.Ser642Arg
NM_152629.3:c.1461T>G NP_689842.3:p.Ser487Arg
XM_005251386.3:c.1461T>G XP_005251443.1:p.Ser487Arg
XM_005251387.3:c.1260T>G XP_005251444.1:p.Ser420Arg
XM_005251388.3:c.1260T>G XP_005251445.1:p.Ser420Arg
XM_011517763.1:c.1926T>G XP_011516065.1:p.Ser642Arg
XM_011517764.1:c.1926T>G XP_011516066.1:p.Ser642Arg
XM_011517765.1:c.1926T>G XP_011516067.1:p.Ser642Arg
XM_011517766.1:c.1461T>G XP_011516068.1:p.Ser487Arg
XM_011517767.1:c.1260T>G XP_011516069.1:p.Ser420Arg
XM_005251386.4:c.1461T>G XP_005251443.1:p.Ser487Arg
XM_005251387.4:c.1260T>G XP_005251444.1:p.Ser420Arg
XM_005251388.4:c.1260T>G XP_005251445.1:p.Ser420Arg
XM_011517763.2:c.1926T>G XP_011516065.1:p.Ser642Arg
XM_011517764.2:c.1926T>G XP_011516066.1:p.Ser642Arg
XM_011517765.2:c.1926T>G XP_011516067.1:p.Ser642Arg
XM_011517766.2:c.1461T>G XP_011516068.1:p.Ser487Arg
XM_011517767.3:c.1260T>G XP_011516069.1:p.Ser420Arg
XM_017014361.1:c.1461T>G XP_016869850.1:p.Ser487Arg
NM_001042413.2:c.1926T>G MANE Select NP_001035878.1:p.Ser642Arg
NM_152629.4:c.1461T>G NP_689842.3:p.Ser487Arg