Canonical Allele Identifier: CA1828933245

Gene: GLIS3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856117G= , CM000671.2:g.3856117G=	GRCh38
NC_000009.11:g.3856117G= , CM000671.1:g.3856117G=	GRCh37
NC_000009.10:g.3846117G=	NCBI36
NG_011782.1:g.448919C=
NG_011782.2:g.448919C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.923C=
ENST00000491889.6:c.*1728C=	ENSP00000419914.1:n.*1728C=
ENST00000645252.2:n.807C=
ENST00000682749.1:c.1900C=	ENSP00000507306.1:p.Leu634=
ENST00000682846.1:c.132-26625C=	ENSP00000507527.1:n.132-26625C=
ENST00000682864.1:n.864C=
ENST00000381971.8:c.2365C= MANE Select	ENSP00000371398.3:p.Leu789=
ENST00000645252.1:n.807C=
ENST00000324333.14:c.1900C=	ENSP00000325494.10:p.Leu634=
ENST00000381971.7:c.2365C=	ENSP00000371398.3:p.Leu789=
ENST00000461870.5:n.721C=
ENST00000467497.6:n.905C=
NM_001042413.1:c.2365C=	NP_001035878.1:p.Leu789=
NM_152629.3:c.1900C=	NP_689842.3:p.Leu634=
XM_005251386.3:c.1900C=	XP_005251443.1:p.Leu634=
XM_005251387.3:c.1699C=	XP_005251444.1:p.Leu567=
XM_005251388.3:c.1699C=	XP_005251445.1:p.Leu567=
XM_011517763.1:c.2365C=	XP_011516065.1:p.Leu789=
XM_011517764.1:c.2365C=	XP_011516066.1:p.Leu789=
XM_011517765.1:c.2365C=	XP_011516067.1:p.Leu789=
XM_011517766.1:c.1900C=	XP_011516068.1:p.Leu634=
XM_011517767.1:c.1699C=	XP_011516069.1:p.Leu567=
XM_005251386.4:c.1900C=	XP_005251443.1:p.Leu634=
XM_005251387.4:c.1699C=	XP_005251444.1:p.Leu567=
XM_005251388.4:c.1699C=	XP_005251445.1:p.Leu567=
XM_011517763.2:c.2365C=	XP_011516065.1:p.Leu789=
XM_011517764.2:c.2365C=	XP_011516066.1:p.Leu789=
XM_011517765.2:c.2365C=	XP_011516067.1:p.Leu789=
XM_011517766.2:c.1900C=	XP_011516068.1:p.Leu634=
XM_011517767.3:c.1699C=	XP_011516069.1:p.Leu567=
XM_017014361.1:c.1900C=	XP_016869850.1:p.Leu634=
NM_001042413.2:c.2365C= MANE Select	NP_001035878.1:p.Leu789=
NM_152629.4:c.1900C=	NP_689842.3:p.Leu634=