Canonical Allele Identifier: CA372806414

Gene: GLIS3

Linked Data

• dbSNP Id: rs1831804698
• gnomAD v4: 9-4117926-C-T
• COSMIC: COSM4139415 ; COSM4139416
• MyVariant Identifiers: chr9:g.4117926C>T (hg19) ; chr9:g.4117926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4117926C>T , CM000671.2:g.4117926C>T	GRCh38
NC_000009.11:g.4117926C>T , CM000671.1:g.4117926C>T	GRCh37
NC_000009.10:g.4107926C>T	NCBI36
NG_011782.1:g.187110G>A
NG_011782.2:g.187110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*915G>A	ENSP00000419914.1:n.*915G>A
ENST00000645252.2:n.152+33014G>A
ENST00000682749.1:c.1087G>A	ENSP00000507306.1:p.Val363Met
ENST00000682846.1:c.131+7808G>A	ENSP00000507527.1:n.131+7808G>A
ENST00000381971.8:c.1552G>A MANE Select	ENSP00000371398.3:p.Val518Met
ENST00000645252.1:n.152+33014G>A
ENST00000324333.14:c.1087G>A	ENSP00000325494.10:p.Val363Met
ENST00000381971.7:c.1552G>A	ENSP00000371398.3:p.Val518Met
ENST00000467497.6:n.92G>A
NM_001042413.1:c.1552G>A	NP_001035878.1:p.Val518Met
NM_152629.3:c.1087G>A	NP_689842.3:p.Val363Met
XM_005251386.3:c.1087G>A	XP_005251443.1:p.Val363Met
XM_005251387.3:c.886G>A	XP_005251444.1:p.Val296Met
XM_005251388.3:c.886G>A	XP_005251445.1:p.Val296Met
XM_005251389.3:c.1552G>A	XP_005251446.1:p.Val518Met
XM_006716731.2:c.1552G>A	XP_006716794.1:p.Val518Met
XM_011517763.1:c.1552G>A	XP_011516065.1:p.Val518Met
XM_011517764.1:c.1552G>A	XP_011516066.1:p.Val518Met
XM_011517765.1:c.1552G>A	XP_011516067.1:p.Val518Met
XM_011517766.1:c.1087G>A	XP_011516068.1:p.Val363Met
XM_011517767.1:c.886G>A	XP_011516069.1:p.Val296Met
XM_011517768.1:c.1552G>A	XP_011516070.1:p.Val518Met
XM_011517769.1:c.1552G>A	XP_011516071.1:p.Val518Met
XR_929206.1:n.2318G>A
XM_005251386.4:c.1087G>A	XP_005251443.1:p.Val363Met
XM_005251387.4:c.886G>A	XP_005251444.1:p.Val296Met
XM_005251388.4:c.886G>A	XP_005251445.1:p.Val296Met
XM_005251389.5:c.1552G>A	XP_005251446.1:p.Val518Met
XM_006716731.3:c.1552G>A	XP_006716794.1:p.Val518Met
XM_011517763.2:c.1552G>A	XP_011516065.1:p.Val518Met
XM_011517764.2:c.1552G>A	XP_011516066.1:p.Val518Met
XM_011517765.2:c.1552G>A	XP_011516067.1:p.Val518Met
XM_011517766.2:c.1087G>A	XP_011516068.1:p.Val363Met
XM_011517767.3:c.886G>A	XP_011516069.1:p.Val296Met
XM_011517769.2:c.1552G>A	XP_011516071.1:p.Val518Met
XM_017014361.1:c.1087G>A	XP_016869850.1:p.Val363Met
XR_929206.2:n.2314G>A
NM_001042413.2:c.1552G>A MANE Select	NP_001035878.1:p.Val518Met
NM_152629.4:c.1087G>A	NP_689842.3:p.Val363Met