Canonical Allele Identifier: CA372808098

Gene: GLIS3

Linked Data

• dbSNP Id: rs1831953666
• gnomAD v4: 9-4118783-C-T
• MyVariant Identifiers: chr9:g.4118783C>T (hg19) ; chr9:g.4118783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118783C>T , CM000671.2:g.4118783C>T	GRCh38
NC_000009.11:g.4118783C>T , CM000671.1:g.4118783C>T	GRCh37
NC_000009.10:g.4108783C>T	NCBI36
NG_011782.1:g.186253G>A
NG_011782.2:g.186253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*58G>A	ENSP00000419914.1:n.*58G>A
ENST00000645252.2:n.152+32157G>A
ENST00000682749.1:c.230G>A	ENSP00000507306.1:p.Arg77Lys
ENST00000682846.1:c.131+6951G>A	ENSP00000507527.1:n.131+6951G>A
ENST00000381971.8:c.695G>A MANE Select	ENSP00000371398.3:p.Arg232Lys
ENST00000645252.1:n.152+32157G>A
ENST00000324333.14:c.230G>A	ENSP00000325494.10:p.Arg77Lys
ENST00000381971.7:c.695G>A	ENSP00000371398.3:p.Arg232Lys
ENST00000462164.5:c.230G>A	ENSP00000418671.1:p.Arg77Lys
ENST00000473846.5:n.454G>A
ENST00000477901.5:c.695G>A	ENSP00000417794.1:p.Arg232Lys
ENST00000478315.5:c.230G>A	ENSP00000418995.1:p.Arg77Lys
ENST00000478844.5:c.230G>A	ENSP00000418005.1:p.Arg77Lys
ENST00000481827.5:c.695G>A	ENSP00000417883.1:p.Arg232Lys
ENST00000490709.1:n.515G>A
ENST00000491889.5:c.*58G>A	ENSP00000419914.1:n.*58G>A
NM_001042413.1:c.695G>A	NP_001035878.1:p.Arg232Lys
NM_152629.3:c.230G>A	NP_689842.3:p.Arg77Lys
XM_005251386.3:c.230G>A	XP_005251443.1:p.Arg77Lys
XM_005251387.3:c.29G>A	XP_005251444.1:p.Arg10Lys
XM_005251388.3:c.29G>A	XP_005251445.1:p.Arg10Lys
XM_005251389.3:c.695G>A	XP_005251446.1:p.Arg232Lys
XM_006716731.2:c.695G>A	XP_006716794.1:p.Arg232Lys
XM_011517763.1:c.695G>A	XP_011516065.1:p.Arg232Lys
XM_011517764.1:c.695G>A	XP_011516066.1:p.Arg232Lys
XM_011517765.1:c.695G>A	XP_011516067.1:p.Arg232Lys
XM_011517766.1:c.230G>A	XP_011516068.1:p.Arg77Lys
XM_011517767.1:c.29G>A	XP_011516069.1:p.Arg10Lys
XM_011517768.1:c.695G>A	XP_011516070.1:p.Arg232Lys
XM_011517769.1:c.695G>A	XP_011516071.1:p.Arg232Lys
XR_929206.1:n.1461G>A
XM_005251386.4:c.230G>A	XP_005251443.1:p.Arg77Lys
XM_005251387.4:c.29G>A	XP_005251444.1:p.Arg10Lys
XM_005251388.4:c.29G>A	XP_005251445.1:p.Arg10Lys
XM_005251389.5:c.695G>A	XP_005251446.1:p.Arg232Lys
XM_006716731.3:c.695G>A	XP_006716794.1:p.Arg232Lys
XM_011517763.2:c.695G>A	XP_011516065.1:p.Arg232Lys
XM_011517764.2:c.695G>A	XP_011516066.1:p.Arg232Lys
XM_011517765.2:c.695G>A	XP_011516067.1:p.Arg232Lys
XM_011517766.2:c.230G>A	XP_011516068.1:p.Arg77Lys
XM_011517767.3:c.29G>A	XP_011516069.1:p.Arg10Lys
XM_011517769.2:c.695G>A	XP_011516071.1:p.Arg232Lys
XM_017014361.1:c.230G>A	XP_016869850.1:p.Arg77Lys
XR_929206.2:n.1457G>A
NM_001042413.2:c.695G>A MANE Select	NP_001035878.1:p.Arg232Lys
NM_152629.4:c.230G>A	NP_689842.3:p.Arg77Lys