Canonical Allele Identifier: CA372805534
Gene: GLIS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856152A>G , CM000671.2:g.3856152A>G GRCh38
NC_000009.11:g.3856152A>G , CM000671.1:g.3856152A>G GRCh37
NC_000009.10:g.3846152A>G NCBI36
NG_011782.1:g.448884T>C
NG_011782.2:g.448884T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000464391.2:n.888T>C
ENST00000491889.6:c.*1693T>C ENSP00000419914.1:n.*1693T>C
ENST00000645252.2:n.772T>C
ENST00000682749.1:c.1865T>C ENSP00000507306.1:p.Ile622Thr
ENST00000682846.1:c.132-26660T>C ENSP00000507527.1:n.132-26660T>C
ENST00000682864.1:n.829T>C
ENST00000381971.8:c.2330T>C MANE Select ENSP00000371398.3:p.Ile777Thr
ENST00000645252.1:n.772T>C
ENST00000324333.14:c.1865T>C ENSP00000325494.10:p.Ile622Thr
ENST00000381971.7:c.2330T>C ENSP00000371398.3:p.Ile777Thr
ENST00000461870.5:n.686T>C
ENST00000467497.6:n.870T>C
NM_001042413.1:c.2330T>C NP_001035878.1:p.Ile777Thr
NM_152629.3:c.1865T>C NP_689842.3:p.Ile622Thr
XM_005251386.3:c.1865T>C XP_005251443.1:p.Ile622Thr
XM_005251387.3:c.1664T>C XP_005251444.1:p.Ile555Thr
XM_005251388.3:c.1664T>C XP_005251445.1:p.Ile555Thr
XM_011517763.1:c.2330T>C XP_011516065.1:p.Ile777Thr
XM_011517764.1:c.2330T>C XP_011516066.1:p.Ile777Thr
XM_011517765.1:c.2330T>C XP_011516067.1:p.Ile777Thr
XM_011517766.1:c.1865T>C XP_011516068.1:p.Ile622Thr
XM_011517767.1:c.1664T>C XP_011516069.1:p.Ile555Thr
XM_005251386.4:c.1865T>C XP_005251443.1:p.Ile622Thr
XM_005251387.4:c.1664T>C XP_005251444.1:p.Ile555Thr
XM_005251388.4:c.1664T>C XP_005251445.1:p.Ile555Thr
XM_011517763.2:c.2330T>C XP_011516065.1:p.Ile777Thr
XM_011517764.2:c.2330T>C XP_011516066.1:p.Ile777Thr
XM_011517765.2:c.2330T>C XP_011516067.1:p.Ile777Thr
XM_011517766.2:c.1865T>C XP_011516068.1:p.Ile622Thr
XM_011517767.3:c.1664T>C XP_011516069.1:p.Ile555Thr
XM_017014361.1:c.1865T>C XP_016869850.1:p.Ile622Thr
NM_001042413.2:c.2330T>C MANE Select NP_001035878.1:p.Ile777Thr
NM_152629.4:c.1865T>C NP_689842.3:p.Ile622Thr