Canonical Allele Identifier: CA2689276842

Gene: GLIS3

Linked Data

• gnomAD v4: 9-3932228-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932228C>G , CM000671.2:g.3932228C>G	GRCh38
NC_000009.11:g.3932228C>G , CM000671.1:g.3932228C>G	GRCh37
NC_000009.10:g.3922228C>G	NCBI36
NG_011782.1:g.372808G>C
NG_011782.2:g.372808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.273+132G>C
ENST00000464391.2:n.541+132G>C
ENST00000491889.6:c.*1346+132G>C	ENSP00000419914.1:n.*1346+132G>C
ENST00000645252.2:n.425+132G>C
ENST00000682749.1:c.1518+132G>C	ENSP00000507306.1:n.1518+132G>C
ENST00000682846.1:c.132-102736G>C	ENSP00000507527.1:n.132-102736G>C
ENST00000682864.1:n.482+132G>C
ENST00000381971.8:c.1983+132G>C MANE Select	ENSP00000371398.3:n.1983+132G>C
ENST00000645252.1:n.425+132G>C
ENST00000324333.14:c.1518+132G>C	ENSP00000325494.10:n.1518+132G>C
ENST00000381971.7:c.1983+132G>C	ENSP00000371398.3:n.1983+132G>C
ENST00000461870.5:n.339+132G>C
ENST00000463680.5:n.273+132G>C
ENST00000467497.6:n.523+132G>C
NM_001042413.1:c.1983+132G>C	NP_001035878.1:n.1983+132G>C
NM_152629.3:c.1518+132G>C	NP_689842.3:n.1518+132G>C
XM_005251386.3:c.1518+132G>C	XP_005251443.1:n.1518+132G>C
XM_005251387.3:c.1317+132G>C	XP_005251444.1:n.1317+132G>C
XM_005251388.3:c.1317+132G>C	XP_005251445.1:n.1317+132G>C
XM_011517763.1:c.1983+132G>C	XP_011516065.1:n.1983+132G>C
XM_011517764.1:c.1983+132G>C	XP_011516066.1:n.1983+132G>C
XM_011517765.1:c.1983+132G>C	XP_011516067.1:n.1983+132G>C
XM_011517766.1:c.1518+132G>C	XP_011516068.1:n.1518+132G>C
XM_011517767.1:c.1317+132G>C	XP_011516069.1:n.1317+132G>C
XM_005251386.4:c.1518+132G>C	XP_005251443.1:n.1518+132G>C
XM_005251387.4:c.1317+132G>C	XP_005251444.1:n.1317+132G>C
XM_005251388.4:c.1317+132G>C	XP_005251445.1:n.1317+132G>C
XM_011517763.2:c.1983+132G>C	XP_011516065.1:n.1983+132G>C
XM_011517764.2:c.1983+132G>C	XP_011516066.1:n.1983+132G>C
XM_011517765.2:c.1983+132G>C	XP_011516067.1:n.1983+132G>C
XM_011517766.2:c.1518+132G>C	XP_011516068.1:n.1518+132G>C
XM_011517767.3:c.1317+132G>C	XP_011516069.1:n.1317+132G>C
XM_017014361.1:c.1518+132G>C	XP_016869850.1:n.1518+132G>C
NM_001042413.2:c.1983+132G>C MANE Select	NP_001035878.1:n.1983+132G>C
NM_152629.4:c.1518+132G>C	NP_689842.3:n.1518+132G>C