Canonical Allele Identifier: CA372805422
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs1588094375

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856093T>G , CM000671.2:g.3856093T>G GRCh38
NC_000009.11:g.3856093T>G , CM000671.1:g.3856093T>G GRCh37
NC_000009.10:g.3846093T>G NCBI36
NG_011782.1:g.448943A>C
NG_011782.2:g.448943A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.947A>C
ENST00000491889.6:c.*1752A>C ENSP00000419914.1:n.*1752A>C
ENST00000645252.2:n.831A>C
ENST00000682749.1:c.1924A>C ENSP00000507306.1:p.Thr642Pro
ENST00000682846.1:c.132-26601A>C ENSP00000507527.1:n.132-26601A>C
ENST00000682864.1:n.888A>C
ENST00000381971.8:c.2389A>C MANE Select ENSP00000371398.3:p.Thr797Pro
ENST00000645252.1:n.831A>C
ENST00000324333.14:c.1924A>C ENSP00000325494.10:p.Thr642Pro
ENST00000381971.7:c.2389A>C ENSP00000371398.3:p.Thr797Pro
ENST00000461870.5:n.745A>C
ENST00000467497.6:n.929A>C
NM_001042413.1:c.2389A>C NP_001035878.1:p.Thr797Pro
NM_152629.3:c.1924A>C NP_689842.3:p.Thr642Pro
XM_005251386.3:c.1924A>C XP_005251443.1:p.Thr642Pro
XM_005251387.3:c.1723A>C XP_005251444.1:p.Thr575Pro
XM_005251388.3:c.1723A>C XP_005251445.1:p.Thr575Pro
XM_011517763.1:c.2389A>C XP_011516065.1:p.Thr797Pro
XM_011517764.1:c.2389A>C XP_011516066.1:p.Thr797Pro
XM_011517765.1:c.2389A>C XP_011516067.1:p.Thr797Pro
XM_011517766.1:c.1924A>C XP_011516068.1:p.Thr642Pro
XM_011517767.1:c.1723A>C XP_011516069.1:p.Thr575Pro
XM_005251386.4:c.1924A>C XP_005251443.1:p.Thr642Pro
XM_005251387.4:c.1723A>C XP_005251444.1:p.Thr575Pro
XM_005251388.4:c.1723A>C XP_005251445.1:p.Thr575Pro
XM_011517763.2:c.2389A>C XP_011516065.1:p.Thr797Pro
XM_011517764.2:c.2389A>C XP_011516066.1:p.Thr797Pro
XM_011517765.2:c.2389A>C XP_011516067.1:p.Thr797Pro
XM_011517766.2:c.1924A>C XP_011516068.1:p.Thr642Pro
XM_011517767.3:c.1723A>C XP_011516069.1:p.Thr575Pro
XM_017014361.1:c.1924A>C XP_016869850.1:p.Thr642Pro
NM_001042413.2:c.2389A>C MANE Select NP_001035878.1:p.Thr797Pro
NM_152629.4:c.1924A>C NP_689842.3:p.Thr642Pro