Canonical Allele Identifier: CA372806234
Gene: GLIS3 HGNC NCBI

Linked Data

gnomAD v4: 9-4117842-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4117842T>C , CM000671.2:g.4117842T>C GRCh38
NC_000009.11:g.4117842T>C , CM000671.1:g.4117842T>C GRCh37
NC_000009.10:g.4107842T>C NCBI36
NG_011782.1:g.187194A>G
NG_011782.2:g.187194A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000491889.6:c.*999A>G ENSP00000419914.1:n.*999A>G
ENST00000645252.2:n.152+33098A>G
ENST00000682749.1:c.1171A>G ENSP00000507306.1:p.Lys391Glu
ENST00000682846.1:c.131+7892A>G ENSP00000507527.1:n.131+7892A>G
ENST00000381971.8:c.1636A>G MANE Select ENSP00000371398.3:p.Lys546Glu
ENST00000645252.1:n.152+33098A>G
ENST00000324333.14:c.1171A>G ENSP00000325494.10:p.Lys391Glu
ENST00000381971.7:c.1636A>G ENSP00000371398.3:p.Lys546Glu
ENST00000467497.6:n.176A>G
NM_001042413.1:c.1636A>G NP_001035878.1:p.Lys546Glu
NM_152629.3:c.1171A>G NP_689842.3:p.Lys391Glu
XM_005251386.3:c.1171A>G XP_005251443.1:p.Lys391Glu
XM_005251387.3:c.970A>G XP_005251444.1:p.Lys324Glu
XM_005251388.3:c.970A>G XP_005251445.1:p.Lys324Glu
XM_005251389.3:c.1636A>G XP_005251446.1:p.Lys546Glu
XM_006716731.2:c.1636A>G XP_006716794.1:p.Lys546Glu
XM_011517763.1:c.1636A>G XP_011516065.1:p.Lys546Glu
XM_011517764.1:c.1636A>G XP_011516066.1:p.Lys546Glu
XM_011517765.1:c.1636A>G XP_011516067.1:p.Lys546Glu
XM_011517766.1:c.1171A>G XP_011516068.1:p.Lys391Glu
XM_011517767.1:c.970A>G XP_011516069.1:p.Lys324Glu
XM_011517768.1:c.1636A>G XP_011516070.1:p.Lys546Glu
XM_011517769.1:c.1636A>G XP_011516071.1:p.Lys546Glu
XR_929206.1:n.2402A>G
XM_005251386.4:c.1171A>G XP_005251443.1:p.Lys391Glu
XM_005251387.4:c.970A>G XP_005251444.1:p.Lys324Glu
XM_005251388.4:c.970A>G XP_005251445.1:p.Lys324Glu
XM_005251389.5:c.1636A>G XP_005251446.1:p.Lys546Glu
XM_006716731.3:c.1636A>G XP_006716794.1:p.Lys546Glu
XM_011517763.2:c.1636A>G XP_011516065.1:p.Lys546Glu
XM_011517764.2:c.1636A>G XP_011516066.1:p.Lys546Glu
XM_011517765.2:c.1636A>G XP_011516067.1:p.Lys546Glu
XM_011517766.2:c.1171A>G XP_011516068.1:p.Lys391Glu
XM_011517767.3:c.970A>G XP_011516069.1:p.Lys324Glu
XM_011517769.2:c.1636A>G XP_011516071.1:p.Lys546Glu
XM_017014361.1:c.1171A>G XP_016869850.1:p.Lys391Glu
XR_929206.2:n.2398A>G
NM_001042413.2:c.1636A>G MANE Select NP_001035878.1:p.Lys546Glu
NM_152629.4:c.1171A>G NP_689842.3:p.Lys391Glu