Canonical Allele Identifier: CA188329408

Gene: GLIS3

Linked Data

• dbSNP Id: rs930364564
• gnomAD v2: 9-4118682-A-G
• gnomAD v3: 9-4118682-A-G
• gnomAD v4: 9-4118682-A-G
• MyVariant Identifiers: chr9:g.4118682A>G (hg19) ; chr9:g.4118682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118682A>G , CM000671.2:g.4118682A>G	GRCh38
NC_000009.11:g.4118682A>G , CM000671.1:g.4118682A>G	GRCh37
NC_000009.10:g.4108682A>G	NCBI36
NG_011782.1:g.186354T>C
NG_011782.2:g.186354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*159T>C	ENSP00000419914.1:n.*159T>C
ENST00000645252.2:n.152+32258T>C
ENST00000682749.1:c.331T>C	ENSP00000507306.1:p.Ser111Pro
ENST00000682846.1:c.131+7052T>C	ENSP00000507527.1:n.131+7052T>C
ENST00000381971.8:c.796T>C MANE Select	ENSP00000371398.3:p.Ser266Pro
ENST00000645252.1:n.152+32258T>C
ENST00000324333.14:c.331T>C	ENSP00000325494.10:p.Ser111Pro
ENST00000381971.7:c.796T>C	ENSP00000371398.3:p.Ser266Pro
ENST00000490709.1:n.616T>C
NM_001042413.1:c.796T>C	NP_001035878.1:p.Ser266Pro
NM_152629.3:c.331T>C	NP_689842.3:p.Ser111Pro
XM_005251386.3:c.331T>C	XP_005251443.1:p.Ser111Pro
XM_005251387.3:c.130T>C	XP_005251444.1:p.Ser44Pro
XM_005251388.3:c.130T>C	XP_005251445.1:p.Ser44Pro
XM_005251389.3:c.796T>C	XP_005251446.1:p.Ser266Pro
XM_006716731.2:c.796T>C	XP_006716794.1:p.Ser266Pro
XM_011517763.1:c.796T>C	XP_011516065.1:p.Ser266Pro
XM_011517764.1:c.796T>C	XP_011516066.1:p.Ser266Pro
XM_011517765.1:c.796T>C	XP_011516067.1:p.Ser266Pro
XM_011517766.1:c.331T>C	XP_011516068.1:p.Ser111Pro
XM_011517767.1:c.130T>C	XP_011516069.1:p.Ser44Pro
XM_011517768.1:c.796T>C	XP_011516070.1:p.Ser266Pro
XM_011517769.1:c.796T>C	XP_011516071.1:p.Ser266Pro
XR_929206.1:n.1562T>C
XM_005251386.4:c.331T>C	XP_005251443.1:p.Ser111Pro
XM_005251387.4:c.130T>C	XP_005251444.1:p.Ser44Pro
XM_005251388.4:c.130T>C	XP_005251445.1:p.Ser44Pro
XM_005251389.5:c.796T>C	XP_005251446.1:p.Ser266Pro
XM_006716731.3:c.796T>C	XP_006716794.1:p.Ser266Pro
XM_011517763.2:c.796T>C	XP_011516065.1:p.Ser266Pro
XM_011517764.2:c.796T>C	XP_011516066.1:p.Ser266Pro
XM_011517765.2:c.796T>C	XP_011516067.1:p.Ser266Pro
XM_011517766.2:c.331T>C	XP_011516068.1:p.Ser111Pro
XM_011517767.3:c.130T>C	XP_011516069.1:p.Ser44Pro
XM_011517769.2:c.796T>C	XP_011516071.1:p.Ser266Pro
XM_017014361.1:c.331T>C	XP_016869850.1:p.Ser111Pro
XR_929206.2:n.1558T>C
NM_001042413.2:c.796T>C MANE Select	NP_001035878.1:p.Ser266Pro
NM_152629.4:c.331T>C	NP_689842.3:p.Ser111Pro