Canonical Allele Identifier: CA372807839

Gene: GLIS3

Linked Data

• gnomAD v4: 9-4118648-T-C
• MyVariant Identifiers: chr9:g.4118648T>C (hg19) ; chr9:g.4118648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118648T>C , CM000671.2:g.4118648T>C	GRCh38
NC_000009.11:g.4118648T>C , CM000671.1:g.4118648T>C	GRCh37
NC_000009.10:g.4108648T>C	NCBI36
NG_011782.1:g.186388A>G
NG_011782.2:g.186388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*193A>G	ENSP00000419914.1:n.*193A>G
ENST00000645252.2:n.152+32292A>G
ENST00000682749.1:c.365A>G	ENSP00000507306.1:p.Glu122Gly
ENST00000682846.1:c.131+7086A>G	ENSP00000507527.1:n.131+7086A>G
ENST00000381971.8:c.830A>G MANE Select	ENSP00000371398.3:p.Glu277Gly
ENST00000645252.1:n.152+32292A>G
ENST00000324333.14:c.365A>G	ENSP00000325494.10:p.Glu122Gly
ENST00000381971.7:c.830A>G	ENSP00000371398.3:p.Glu277Gly
ENST00000490709.1:n.650A>G
NM_001042413.1:c.830A>G	NP_001035878.1:p.Glu277Gly
NM_152629.3:c.365A>G	NP_689842.3:p.Glu122Gly
XM_005251386.3:c.365A>G	XP_005251443.1:p.Glu122Gly
XM_005251387.3:c.164A>G	XP_005251444.1:p.Glu55Gly
XM_005251388.3:c.164A>G	XP_005251445.1:p.Glu55Gly
XM_005251389.3:c.830A>G	XP_005251446.1:p.Glu277Gly
XM_006716731.2:c.830A>G	XP_006716794.1:p.Glu277Gly
XM_011517763.1:c.830A>G	XP_011516065.1:p.Glu277Gly
XM_011517764.1:c.830A>G	XP_011516066.1:p.Glu277Gly
XM_011517765.1:c.830A>G	XP_011516067.1:p.Glu277Gly
XM_011517766.1:c.365A>G	XP_011516068.1:p.Glu122Gly
XM_011517767.1:c.164A>G	XP_011516069.1:p.Glu55Gly
XM_011517768.1:c.830A>G	XP_011516070.1:p.Glu277Gly
XM_011517769.1:c.830A>G	XP_011516071.1:p.Glu277Gly
XR_929206.1:n.1596A>G
XM_005251386.4:c.365A>G	XP_005251443.1:p.Glu122Gly
XM_005251387.4:c.164A>G	XP_005251444.1:p.Glu55Gly
XM_005251388.4:c.164A>G	XP_005251445.1:p.Glu55Gly
XM_005251389.5:c.830A>G	XP_005251446.1:p.Glu277Gly
XM_006716731.3:c.830A>G	XP_006716794.1:p.Glu277Gly
XM_011517763.2:c.830A>G	XP_011516065.1:p.Glu277Gly
XM_011517764.2:c.830A>G	XP_011516066.1:p.Glu277Gly
XM_011517765.2:c.830A>G	XP_011516067.1:p.Glu277Gly
XM_011517766.2:c.365A>G	XP_011516068.1:p.Glu122Gly
XM_011517767.3:c.164A>G	XP_011516069.1:p.Glu55Gly
XM_011517769.2:c.830A>G	XP_011516071.1:p.Glu277Gly
XM_017014361.1:c.365A>G	XP_016869850.1:p.Glu122Gly
XR_929206.2:n.1592A>G
NM_001042413.2:c.830A>G MANE Select	NP_001035878.1:p.Glu277Gly
NM_152629.4:c.365A>G	NP_689842.3:p.Glu122Gly