Canonical Allele Identifier: CA372806246

Gene: GLIS3

Linked Data

• dbSNP Id: rs1263003743
• gnomAD v3: 9-4117847-C-A
• gnomAD v4: 9-4117847-C-A
• MyVariant Identifiers: chr9:g.4117847C>A (hg19) ; chr9:g.4117847C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4117847C>A , CM000671.2:g.4117847C>A	GRCh38
NC_000009.11:g.4117847C>A , CM000671.1:g.4117847C>A	GRCh37
NC_000009.10:g.4107847C>A	NCBI36
NG_011782.1:g.187189G>T
NG_011782.2:g.187189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*994G>T	ENSP00000419914.1:n.*994G>T
ENST00000645252.2:n.152+33093G>T
ENST00000682749.1:c.1166G>T	ENSP00000507306.1:p.Arg389Ile
ENST00000682846.1:c.131+7887G>T	ENSP00000507527.1:n.131+7887G>T
ENST00000381971.8:c.1631G>T MANE Select	ENSP00000371398.3:p.Arg544Ile
ENST00000645252.1:n.152+33093G>T
ENST00000324333.14:c.1166G>T	ENSP00000325494.10:p.Arg389Ile
ENST00000381971.7:c.1631G>T	ENSP00000371398.3:p.Arg544Ile
ENST00000467497.6:n.171G>T
NM_001042413.1:c.1631G>T	NP_001035878.1:p.Arg544Ile
NM_152629.3:c.1166G>T	NP_689842.3:p.Arg389Ile
XM_005251386.3:c.1166G>T	XP_005251443.1:p.Arg389Ile
XM_005251387.3:c.965G>T	XP_005251444.1:p.Arg322Ile
XM_005251388.3:c.965G>T	XP_005251445.1:p.Arg322Ile
XM_005251389.3:c.1631G>T	XP_005251446.1:p.Arg544Ile
XM_006716731.2:c.1631G>T	XP_006716794.1:p.Arg544Ile
XM_011517763.1:c.1631G>T	XP_011516065.1:p.Arg544Ile
XM_011517764.1:c.1631G>T	XP_011516066.1:p.Arg544Ile
XM_011517765.1:c.1631G>T	XP_011516067.1:p.Arg544Ile
XM_011517766.1:c.1166G>T	XP_011516068.1:p.Arg389Ile
XM_011517767.1:c.965G>T	XP_011516069.1:p.Arg322Ile
XM_011517768.1:c.1631G>T	XP_011516070.1:p.Arg544Ile
XM_011517769.1:c.1631G>T	XP_011516071.1:p.Arg544Ile
XR_929206.1:n.2397G>T
XM_005251386.4:c.1166G>T	XP_005251443.1:p.Arg389Ile
XM_005251387.4:c.965G>T	XP_005251444.1:p.Arg322Ile
XM_005251388.4:c.965G>T	XP_005251445.1:p.Arg322Ile
XM_005251389.5:c.1631G>T	XP_005251446.1:p.Arg544Ile
XM_006716731.3:c.1631G>T	XP_006716794.1:p.Arg544Ile
XM_011517763.2:c.1631G>T	XP_011516065.1:p.Arg544Ile
XM_011517764.2:c.1631G>T	XP_011516066.1:p.Arg544Ile
XM_011517765.2:c.1631G>T	XP_011516067.1:p.Arg544Ile
XM_011517766.2:c.1166G>T	XP_011516068.1:p.Arg389Ile
XM_011517767.3:c.965G>T	XP_011516069.1:p.Arg322Ile
XM_011517769.2:c.1631G>T	XP_011516071.1:p.Arg544Ile
XM_017014361.1:c.1166G>T	XP_016869850.1:p.Arg389Ile
XR_929206.2:n.2393G>T
NM_001042413.2:c.1631G>T MANE Select	NP_001035878.1:p.Arg544Ile
NM_152629.4:c.1166G>T	NP_689842.3:p.Arg389Ile