Canonical Allele Identifier: CA372807815

Gene: GLIS3

Linked Data

• dbSNP Id: rs1258803497
• gnomAD v2: 9-4118638-G-C
• gnomAD v4: 9-4118638-G-C
• MyVariant Identifiers: chr9:g.4118638G>C (hg19) ; chr9:g.4118638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.4118638G>C , CM000671.2:g.4118638G>C	GRCh38
NC_000009.11:g.4118638G>C , CM000671.1:g.4118638G>C	GRCh37
NC_000009.10:g.4108638G>C	NCBI36
NG_011782.1:g.186398C>G
NG_011782.2:g.186398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*203C>G	ENSP00000419914.1:n.*203C>G
ENST00000645252.2:n.152+32302C>G
ENST00000682749.1:c.375C>G	ENSP00000507306.1:p.His125Gln
ENST00000682846.1:c.131+7096C>G	ENSP00000507527.1:n.131+7096C>G
ENST00000381971.8:c.840C>G MANE Select	ENSP00000371398.3:p.His280Gln
ENST00000645252.1:n.152+32302C>G
ENST00000324333.14:c.375C>G	ENSP00000325494.10:p.His125Gln
ENST00000381971.7:c.840C>G	ENSP00000371398.3:p.His280Gln
ENST00000490709.1:n.660C>G
NM_001042413.1:c.840C>G	NP_001035878.1:p.His280Gln
NM_152629.3:c.375C>G	NP_689842.3:p.His125Gln
XM_005251386.3:c.375C>G	XP_005251443.1:p.His125Gln
XM_005251387.3:c.174C>G	XP_005251444.1:p.His58Gln
XM_005251388.3:c.174C>G	XP_005251445.1:p.His58Gln
XM_005251389.3:c.840C>G	XP_005251446.1:p.His280Gln
XM_006716731.2:c.840C>G	XP_006716794.1:p.His280Gln
XM_011517763.1:c.840C>G	XP_011516065.1:p.His280Gln
XM_011517764.1:c.840C>G	XP_011516066.1:p.His280Gln
XM_011517765.1:c.840C>G	XP_011516067.1:p.His280Gln
XM_011517766.1:c.375C>G	XP_011516068.1:p.His125Gln
XM_011517767.1:c.174C>G	XP_011516069.1:p.His58Gln
XM_011517768.1:c.840C>G	XP_011516070.1:p.His280Gln
XM_011517769.1:c.840C>G	XP_011516071.1:p.His280Gln
XR_929206.1:n.1606C>G
XM_005251386.4:c.375C>G	XP_005251443.1:p.His125Gln
XM_005251387.4:c.174C>G	XP_005251444.1:p.His58Gln
XM_005251388.4:c.174C>G	XP_005251445.1:p.His58Gln
XM_005251389.5:c.840C>G	XP_005251446.1:p.His280Gln
XM_006716731.3:c.840C>G	XP_006716794.1:p.His280Gln
XM_011517763.2:c.840C>G	XP_011516065.1:p.His280Gln
XM_011517764.2:c.840C>G	XP_011516066.1:p.His280Gln
XM_011517765.2:c.840C>G	XP_011516067.1:p.His280Gln
XM_011517766.2:c.375C>G	XP_011516068.1:p.His125Gln
XM_011517767.3:c.174C>G	XP_011516069.1:p.His58Gln
XM_011517769.2:c.840C>G	XP_011516071.1:p.His280Gln
XM_017014361.1:c.375C>G	XP_016869850.1:p.His125Gln
XR_929206.2:n.1602C>G
NM_001042413.2:c.840C>G MANE Select	NP_001035878.1:p.His280Gln
NM_152629.4:c.375C>G	NP_689842.3:p.His125Gln