Canonical Allele Identifier: CA372805491

Gene: GLIS3

Linked Data

• MyVariant Identifiers: chr9:g.3856129G>C (hg19) ; chr9:g.3856129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856129G>C , CM000671.2:g.3856129G>C	GRCh38
NC_000009.11:g.3856129G>C , CM000671.1:g.3856129G>C	GRCh37
NC_000009.10:g.3846129G>C	NCBI36
NG_011782.1:g.448907C>G
NG_011782.2:g.448907C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.911C>G
ENST00000491889.6:c.*1716C>G	ENSP00000419914.1:n.*1716C>G
ENST00000645252.2:n.795C>G
ENST00000682749.1:c.1888C>G	ENSP00000507306.1:p.Pro630Ala
ENST00000682846.1:c.132-26637C>G	ENSP00000507527.1:n.132-26637C>G
ENST00000682864.1:n.852C>G
ENST00000381971.8:c.2353C>G MANE Select	ENSP00000371398.3:p.Pro785Ala
ENST00000645252.1:n.795C>G
ENST00000324333.14:c.1888C>G	ENSP00000325494.10:p.Pro630Ala
ENST00000381971.7:c.2353C>G	ENSP00000371398.3:p.Pro785Ala
ENST00000461870.5:n.709C>G
ENST00000467497.6:n.893C>G
NM_001042413.1:c.2353C>G	NP_001035878.1:p.Pro785Ala
NM_152629.3:c.1888C>G	NP_689842.3:p.Pro630Ala
XM_005251386.3:c.1888C>G	XP_005251443.1:p.Pro630Ala
XM_005251387.3:c.1687C>G	XP_005251444.1:p.Pro563Ala
XM_005251388.3:c.1687C>G	XP_005251445.1:p.Pro563Ala
XM_011517763.1:c.2353C>G	XP_011516065.1:p.Pro785Ala
XM_011517764.1:c.2353C>G	XP_011516066.1:p.Pro785Ala
XM_011517765.1:c.2353C>G	XP_011516067.1:p.Pro785Ala
XM_011517766.1:c.1888C>G	XP_011516068.1:p.Pro630Ala
XM_011517767.1:c.1687C>G	XP_011516069.1:p.Pro563Ala
XM_005251386.4:c.1888C>G	XP_005251443.1:p.Pro630Ala
XM_005251387.4:c.1687C>G	XP_005251444.1:p.Pro563Ala
XM_005251388.4:c.1687C>G	XP_005251445.1:p.Pro563Ala
XM_011517763.2:c.2353C>G	XP_011516065.1:p.Pro785Ala
XM_011517764.2:c.2353C>G	XP_011516066.1:p.Pro785Ala
XM_011517765.2:c.2353C>G	XP_011516067.1:p.Pro785Ala
XM_011517766.2:c.1888C>G	XP_011516068.1:p.Pro630Ala
XM_011517767.3:c.1687C>G	XP_011516069.1:p.Pro563Ala
XM_017014361.1:c.1888C>G	XP_016869850.1:p.Pro630Ala
NM_001042413.2:c.2353C>G MANE Select	NP_001035878.1:p.Pro785Ala
NM_152629.4:c.1888C>G	NP_689842.3:p.Pro630Ala