Canonical Allele Identifier: CA372845510

Gene: GLIS3

Linked Data

• gnomAD v4: 9-3932454-T-A
• MyVariant Identifiers: chr9:g.3932454T>A (hg19) ; chr9:g.3932454T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932454T>A , CM000671.2:g.3932454T>A	GRCh38
NC_000009.11:g.3932454T>A , CM000671.1:g.3932454T>A	GRCh37
NC_000009.10:g.3922454T>A	NCBI36
NG_011782.1:g.372582A>T
NG_011782.2:g.372582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.179A>T
ENST00000464391.2:n.447A>T
ENST00000491889.6:c.*1252A>T	ENSP00000419914.1:n.*1252A>T
ENST00000645252.2:n.331A>T
ENST00000682749.1:c.1424A>T	ENSP00000507306.1:p.Gln475Leu
ENST00000682846.1:c.132-102962A>T	ENSP00000507527.1:n.132-102962A>T
ENST00000682864.1:n.397-9A>T
ENST00000381971.8:c.1889A>T MANE Select	ENSP00000371398.3:p.Gln630Leu
ENST00000645252.1:n.331A>T
ENST00000324333.14:c.1424A>T	ENSP00000325494.10:p.Gln475Leu
ENST00000381971.7:c.1889A>T	ENSP00000371398.3:p.Gln630Leu
ENST00000461870.5:n.245A>T
ENST00000463680.5:n.179A>T
ENST00000464391.1:n.437A>T
ENST00000467497.6:n.429A>T
NM_001042413.1:c.1889A>T	NP_001035878.1:p.Gln630Leu
NM_152629.3:c.1424A>T	NP_689842.3:p.Gln475Leu
XM_005251386.3:c.1424A>T	XP_005251443.1:p.Gln475Leu
XM_005251387.3:c.1223A>T	XP_005251444.1:p.Gln408Leu
XM_005251388.3:c.1223A>T	XP_005251445.1:p.Gln408Leu
XM_011517763.1:c.1889A>T	XP_011516065.1:p.Gln630Leu
XM_011517764.1:c.1889A>T	XP_011516066.1:p.Gln630Leu
XM_011517765.1:c.1889A>T	XP_011516067.1:p.Gln630Leu
XM_011517766.1:c.1424A>T	XP_011516068.1:p.Gln475Leu
XM_011517767.1:c.1223A>T	XP_011516069.1:p.Gln408Leu
XM_005251386.4:c.1424A>T	XP_005251443.1:p.Gln475Leu
XM_005251387.4:c.1223A>T	XP_005251444.1:p.Gln408Leu
XM_005251388.4:c.1223A>T	XP_005251445.1:p.Gln408Leu
XM_011517763.2:c.1889A>T	XP_011516065.1:p.Gln630Leu
XM_011517764.2:c.1889A>T	XP_011516066.1:p.Gln630Leu
XM_011517765.2:c.1889A>T	XP_011516067.1:p.Gln630Leu
XM_011517766.2:c.1424A>T	XP_011516068.1:p.Gln475Leu
XM_011517767.3:c.1223A>T	XP_011516069.1:p.Gln408Leu
XM_017014361.1:c.1424A>T	XP_016869850.1:p.Gln475Leu
NM_001042413.2:c.1889A>T MANE Select	NP_001035878.1:p.Gln630Leu
NM_152629.4:c.1424A>T	NP_689842.3:p.Gln475Leu