Canonical Allele Identifier: CA372808165

Gene: GLIS3

Linked Data

• gnomAD v4: 9-4118813-C-T
• COSMIC: COSM4139419 ; COSM4139420
• MyVariant Identifiers: chr9:g.4118813C>T (hg19) ; chr9:g.4118813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118813C>T , CM000671.2:g.4118813C>T	GRCh38
NC_000009.11:g.4118813C>T , CM000671.1:g.4118813C>T	GRCh37
NC_000009.10:g.4108813C>T	NCBI36
NG_011782.1:g.186223G>A
NG_011782.2:g.186223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*28G>A	ENSP00000419914.1:n.*28G>A
ENST00000645252.2:n.152+32127G>A
ENST00000682749.1:c.200G>A	ENSP00000507306.1:p.Ser67Asn
ENST00000682846.1:c.131+6921G>A	ENSP00000507527.1:n.131+6921G>A
ENST00000381971.8:c.665G>A MANE Select	ENSP00000371398.3:p.Ser222Asn
ENST00000645252.1:n.152+32127G>A
ENST00000324333.14:c.200G>A	ENSP00000325494.10:p.Ser67Asn
ENST00000381971.7:c.665G>A	ENSP00000371398.3:p.Ser222Asn
ENST00000462164.5:c.200G>A	ENSP00000418671.1:p.Ser67Asn
ENST00000473846.5:n.424G>A
ENST00000477901.5:c.665G>A	ENSP00000417794.1:p.Ser222Asn
ENST00000478315.5:c.200G>A	ENSP00000418995.1:p.Ser67Asn
ENST00000478844.5:c.200G>A	ENSP00000418005.1:p.Ser67Asn
ENST00000481827.5:c.665G>A	ENSP00000417883.1:p.Ser222Asn
ENST00000490709.1:n.485G>A
ENST00000491889.5:c.*28G>A	ENSP00000419914.1:n.*28G>A
NM_001042413.1:c.665G>A	NP_001035878.1:p.Ser222Asn
NM_152629.3:c.200G>A	NP_689842.3:p.Ser67Asn
XM_005251386.3:c.200G>A	XP_005251443.1:p.Ser67Asn
XM_005251387.3:c.-2G>A	XP_005251444.1:n.-2G>A
XM_005251388.3:c.-2G>A	XP_005251445.1:n.-2G>A
XM_005251389.3:c.665G>A	XP_005251446.1:p.Ser222Asn
XM_006716731.2:c.665G>A	XP_006716794.1:p.Ser222Asn
XM_011517763.1:c.665G>A	XP_011516065.1:p.Ser222Asn
XM_011517764.1:c.665G>A	XP_011516066.1:p.Ser222Asn
XM_011517765.1:c.665G>A	XP_011516067.1:p.Ser222Asn
XM_011517766.1:c.200G>A	XP_011516068.1:p.Ser67Asn
XM_011517767.1:c.-2G>A	XP_011516069.1:n.-2G>A
XM_011517768.1:c.665G>A	XP_011516070.1:p.Ser222Asn
XM_011517769.1:c.665G>A	XP_011516071.1:p.Ser222Asn
XR_929206.1:n.1431G>A
XM_005251386.4:c.200G>A	XP_005251443.1:p.Ser67Asn
XM_005251387.4:c.-2G>A	XP_005251444.1:n.-2G>A
XM_005251388.4:c.-2G>A	XP_005251445.1:n.-2G>A
XM_005251389.5:c.665G>A	XP_005251446.1:p.Ser222Asn
XM_006716731.3:c.665G>A	XP_006716794.1:p.Ser222Asn
XM_011517763.2:c.665G>A	XP_011516065.1:p.Ser222Asn
XM_011517764.2:c.665G>A	XP_011516066.1:p.Ser222Asn
XM_011517765.2:c.665G>A	XP_011516067.1:p.Ser222Asn
XM_011517766.2:c.200G>A	XP_011516068.1:p.Ser67Asn
XM_011517767.3:c.-2G>A	XP_011516069.1:n.-2G>A
XM_011517769.2:c.665G>A	XP_011516071.1:p.Ser222Asn
XM_017014361.1:c.200G>A	XP_016869850.1:p.Ser67Asn
XR_929206.2:n.1427G>A
NM_001042413.2:c.665G>A MANE Select	NP_001035878.1:p.Ser222Asn
NM_152629.4:c.200G>A	NP_689842.3:p.Ser67Asn