Canonical Allele Identifier: CA372807778

Gene: GLIS3

Linked Data

• dbSNP Id: rs748493859
• gnomAD v4: 9-4118618-C-G
• MyVariant Identifiers: chr9:g.4118618C>G (hg19) ; chr9:g.4118618C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118618C>G , CM000671.2:g.4118618C>G	GRCh38
NC_000009.11:g.4118618C>G , CM000671.1:g.4118618C>G	GRCh37
NC_000009.10:g.4108618C>G	NCBI36
NG_011782.1:g.186418G>C
NG_011782.2:g.186418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*223G>C	ENSP00000419914.1:n.*223G>C
ENST00000645252.2:n.152+32322G>C
ENST00000682749.1:c.395G>C	ENSP00000507306.1:p.Arg132Pro
ENST00000682846.1:c.131+7116G>C	ENSP00000507527.1:n.131+7116G>C
ENST00000381971.8:c.860G>C MANE Select	ENSP00000371398.3:p.Arg287Pro
ENST00000645252.1:n.152+32322G>C
ENST00000324333.14:c.395G>C	ENSP00000325494.10:p.Arg132Pro
ENST00000381971.7:c.860G>C	ENSP00000371398.3:p.Arg287Pro
ENST00000490709.1:n.680G>C
NM_001042413.1:c.860G>C	NP_001035878.1:p.Arg287Pro
NM_152629.3:c.395G>C	NP_689842.3:p.Arg132Pro
XM_005251386.3:c.395G>C	XP_005251443.1:p.Arg132Pro
XM_005251387.3:c.194G>C	XP_005251444.1:p.Arg65Pro
XM_005251388.3:c.194G>C	XP_005251445.1:p.Arg65Pro
XM_005251389.3:c.860G>C	XP_005251446.1:p.Arg287Pro
XM_006716731.2:c.860G>C	XP_006716794.1:p.Arg287Pro
XM_011517763.1:c.860G>C	XP_011516065.1:p.Arg287Pro
XM_011517764.1:c.860G>C	XP_011516066.1:p.Arg287Pro
XM_011517765.1:c.860G>C	XP_011516067.1:p.Arg287Pro
XM_011517766.1:c.395G>C	XP_011516068.1:p.Arg132Pro
XM_011517767.1:c.194G>C	XP_011516069.1:p.Arg65Pro
XM_011517768.1:c.860G>C	XP_011516070.1:p.Arg287Pro
XM_011517769.1:c.860G>C	XP_011516071.1:p.Arg287Pro
XR_929206.1:n.1626G>C
XM_005251386.4:c.395G>C	XP_005251443.1:p.Arg132Pro
XM_005251387.4:c.194G>C	XP_005251444.1:p.Arg65Pro
XM_005251388.4:c.194G>C	XP_005251445.1:p.Arg65Pro
XM_005251389.5:c.860G>C	XP_005251446.1:p.Arg287Pro
XM_006716731.3:c.860G>C	XP_006716794.1:p.Arg287Pro
XM_011517763.2:c.860G>C	XP_011516065.1:p.Arg287Pro
XM_011517764.2:c.860G>C	XP_011516066.1:p.Arg287Pro
XM_011517765.2:c.860G>C	XP_011516067.1:p.Arg287Pro
XM_011517766.2:c.395G>C	XP_011516068.1:p.Arg132Pro
XM_011517767.3:c.194G>C	XP_011516069.1:p.Arg65Pro
XM_011517769.2:c.860G>C	XP_011516071.1:p.Arg287Pro
XM_017014361.1:c.395G>C	XP_016869850.1:p.Arg132Pro
XR_929206.2:n.1622G>C
NM_001042413.2:c.860G>C MANE Select	NP_001035878.1:p.Arg287Pro
NM_152629.4:c.395G>C	NP_689842.3:p.Arg132Pro