Canonical Allele Identifier: CA4968117

Gene: GLIS3

Linked Data

• ClinVar Variation Id: 2218835
• ClinVar RCV Id: RCV002687456
• dbSNP Id: rs181328309
• ExAC: 9:4117769 G / A
• gnomAD v2: 9-4117769-G-A
• gnomAD v3: 9-4117769-G-A
• gnomAD v4: 9-4117769-G-A
• MyVariant Identifiers: chr9:g.4117769G>A (hg19) ; chr9:g.4117769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4117769G>A , CM000671.2:g.4117769G>A	GRCh38
NC_000009.11:g.4117769G>A , CM000671.1:g.4117769G>A	GRCh37
NC_000009.10:g.4107769G>A	NCBI36
NG_011782.1:g.187267C>T
NG_011782.2:g.187267C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000491889.6:c.*1072C>T	ENSP00000419914.1:n.*1072C>T
ENST00000645252.2:n.152+33171C>T
ENST00000682749.1:c.1244C>T	ENSP00000507306.1:p.Thr415Met
ENST00000682846.1:c.131+7965C>T	ENSP00000507527.1:n.131+7965C>T
ENST00000381971.8:c.1709C>T MANE Select	ENSP00000371398.3:p.Thr570Met
ENST00000645252.1:n.152+33171C>T
ENST00000324333.14:c.1244C>T	ENSP00000325494.10:p.Thr415Met
ENST00000381971.7:c.1709C>T	ENSP00000371398.3:p.Thr570Met
ENST00000467497.6:n.249C>T
NM_001042413.1:c.1709C>T	NP_001035878.1:p.Thr570Met
NM_152629.3:c.1244C>T	NP_689842.3:p.Thr415Met
XM_005251386.3:c.1244C>T	XP_005251443.1:p.Thr415Met
XM_005251387.3:c.1043C>T	XP_005251444.1:p.Thr348Met
XM_005251388.3:c.1043C>T	XP_005251445.1:p.Thr348Met
XM_005251389.3:c.1709C>T	XP_005251446.1:p.Thr570Met
XM_006716731.2:c.1709C>T	XP_006716794.1:p.Thr570Met
XM_011517763.1:c.1709C>T	XP_011516065.1:p.Thr570Met
XM_011517764.1:c.1709C>T	XP_011516066.1:p.Thr570Met
XM_011517765.1:c.1709C>T	XP_011516067.1:p.Thr570Met
XM_011517766.1:c.1244C>T	XP_011516068.1:p.Thr415Met
XM_011517767.1:c.1043C>T	XP_011516069.1:p.Thr348Met
XM_011517768.1:c.1709C>T	XP_011516070.1:p.Thr570Met
XM_011517769.1:c.1709C>T	XP_011516071.1:p.Thr570Met
XR_929206.1:n.2475C>T
XM_005251386.4:c.1244C>T	XP_005251443.1:p.Thr415Met
XM_005251387.4:c.1043C>T	XP_005251444.1:p.Thr348Met
XM_005251388.4:c.1043C>T	XP_005251445.1:p.Thr348Met
XM_005251389.5:c.1709C>T	XP_005251446.1:p.Thr570Met
XM_006716731.3:c.1709C>T	XP_006716794.1:p.Thr570Met
XM_011517763.2:c.1709C>T	XP_011516065.1:p.Thr570Met
XM_011517764.2:c.1709C>T	XP_011516066.1:p.Thr570Met
XM_011517765.2:c.1709C>T	XP_011516067.1:p.Thr570Met
XM_011517766.2:c.1244C>T	XP_011516068.1:p.Thr415Met
XM_011517767.3:c.1043C>T	XP_011516069.1:p.Thr348Met
XM_011517769.2:c.1709C>T	XP_011516071.1:p.Thr570Met
XM_017014361.1:c.1244C>T	XP_016869850.1:p.Thr415Met
XR_929206.2:n.2471C>T
NM_001042413.2:c.1709C>T MANE Select	NP_001035878.1:p.Thr570Met
NM_152629.4:c.1244C>T	NP_689842.3:p.Thr415Met