Canonical Allele Identifier: CA372805539
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856155T>A , CM000671.2:g.3856155T>A GRCh38
NC_000009.11:g.3856155T>A , CM000671.1:g.3856155T>A GRCh37
NC_000009.10:g.3846155T>A NCBI36
NG_011782.1:g.448881A>T
NG_011782.2:g.448881A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464391.2:n.885A>T
ENST00000491889.6:c.*1690A>T ENSP00000419914.1:n.*1690A>T
ENST00000645252.2:n.769A>T
ENST00000682749.1:c.1862A>T ENSP00000507306.1:p.His621Leu
ENST00000682846.1:c.132-26663A>T ENSP00000507527.1:n.132-26663A>T
ENST00000682864.1:n.826A>T
ENST00000381971.8:c.2327A>T MANE Select ENSP00000371398.3:p.His776Leu
ENST00000645252.1:n.769A>T
ENST00000324333.14:c.1862A>T ENSP00000325494.10:p.His621Leu
ENST00000381971.7:c.2327A>T ENSP00000371398.3:p.His776Leu
ENST00000461870.5:n.683A>T
ENST00000467497.6:n.867A>T
NM_001042413.1:c.2327A>T NP_001035878.1:p.His776Leu
NM_152629.3:c.1862A>T NP_689842.3:p.His621Leu
XM_005251386.3:c.1862A>T XP_005251443.1:p.His621Leu
XM_005251387.3:c.1661A>T XP_005251444.1:p.His554Leu
XM_005251388.3:c.1661A>T XP_005251445.1:p.His554Leu
XM_011517763.1:c.2327A>T XP_011516065.1:p.His776Leu
XM_011517764.1:c.2327A>T XP_011516066.1:p.His776Leu
XM_011517765.1:c.2327A>T XP_011516067.1:p.His776Leu
XM_011517766.1:c.1862A>T XP_011516068.1:p.His621Leu
XM_011517767.1:c.1661A>T XP_011516069.1:p.His554Leu
XM_005251386.4:c.1862A>T XP_005251443.1:p.His621Leu
XM_005251387.4:c.1661A>T XP_005251444.1:p.His554Leu
XM_005251388.4:c.1661A>T XP_005251445.1:p.His554Leu
XM_011517763.2:c.2327A>T XP_011516065.1:p.His776Leu
XM_011517764.2:c.2327A>T XP_011516066.1:p.His776Leu
XM_011517765.2:c.2327A>T XP_011516067.1:p.His776Leu
XM_011517766.2:c.1862A>T XP_011516068.1:p.His621Leu
XM_011517767.3:c.1661A>T XP_011516069.1:p.His554Leu
XM_017014361.1:c.1862A>T XP_016869850.1:p.His621Leu
NM_001042413.2:c.2327A>T MANE Select NP_001035878.1:p.His776Leu
NM_152629.4:c.1862A>T NP_689842.3:p.His621Leu