Canonical Allele Identifier: CA372805468

Gene: GLIS3

Linked Data

• dbSNP Id: rs1256342926
• gnomAD v2: 9-3856116-A-G
• gnomAD v4: 9-3856116-A-G
• MyVariant Identifiers: chr9:g.3856116A>G (hg19) ; chr9:g.3856116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856116A>G , CM000671.2:g.3856116A>G	GRCh38
NC_000009.11:g.3856116A>G , CM000671.1:g.3856116A>G	GRCh37
NC_000009.10:g.3846116A>G	NCBI36
NG_011782.1:g.448920T>C
NG_011782.2:g.448920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.924T>C
ENST00000491889.6:c.*1729T>C	ENSP00000419914.1:n.*1729T>C
ENST00000645252.2:n.808T>C
ENST00000682749.1:c.1901T>C	ENSP00000507306.1:p.Leu634Pro
ENST00000682846.1:c.132-26624T>C	ENSP00000507527.1:n.132-26624T>C
ENST00000682864.1:n.865T>C
ENST00000381971.8:c.2366T>C MANE Select	ENSP00000371398.3:p.Leu789Pro
ENST00000645252.1:n.808T>C
ENST00000324333.14:c.1901T>C	ENSP00000325494.10:p.Leu634Pro
ENST00000381971.7:c.2366T>C	ENSP00000371398.3:p.Leu789Pro
ENST00000461870.5:n.722T>C
ENST00000467497.6:n.906T>C
NM_001042413.1:c.2366T>C	NP_001035878.1:p.Leu789Pro
NM_152629.3:c.1901T>C	NP_689842.3:p.Leu634Pro
XM_005251386.3:c.1901T>C	XP_005251443.1:p.Leu634Pro
XM_005251387.3:c.1700T>C	XP_005251444.1:p.Leu567Pro
XM_005251388.3:c.1700T>C	XP_005251445.1:p.Leu567Pro
XM_011517763.1:c.2366T>C	XP_011516065.1:p.Leu789Pro
XM_011517764.1:c.2366T>C	XP_011516066.1:p.Leu789Pro
XM_011517765.1:c.2366T>C	XP_011516067.1:p.Leu789Pro
XM_011517766.1:c.1901T>C	XP_011516068.1:p.Leu634Pro
XM_011517767.1:c.1700T>C	XP_011516069.1:p.Leu567Pro
XM_005251386.4:c.1901T>C	XP_005251443.1:p.Leu634Pro
XM_005251387.4:c.1700T>C	XP_005251444.1:p.Leu567Pro
XM_005251388.4:c.1700T>C	XP_005251445.1:p.Leu567Pro
XM_011517763.2:c.2366T>C	XP_011516065.1:p.Leu789Pro
XM_011517764.2:c.2366T>C	XP_011516066.1:p.Leu789Pro
XM_011517765.2:c.2366T>C	XP_011516067.1:p.Leu789Pro
XM_011517766.2:c.1901T>C	XP_011516068.1:p.Leu634Pro
XM_011517767.3:c.1700T>C	XP_011516069.1:p.Leu567Pro
XM_017014361.1:c.1901T>C	XP_016869850.1:p.Leu634Pro
NM_001042413.2:c.2366T>C MANE Select	NP_001035878.1:p.Leu789Pro
NM_152629.4:c.1901T>C	NP_689842.3:p.Leu634Pro