Canonical Allele Identifier: CA372805292
Gene: GLIS3 HGNC NCBI

Linked Data

gnomAD v4: 9-3856032-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856032T>G , CM000671.2:g.3856032T>G GRCh38
NC_000009.11:g.3856032T>G , CM000671.1:g.3856032T>G GRCh37
NC_000009.10:g.3846032T>G NCBI36
NG_011782.1:g.449004A>C
NG_011782.2:g.449004A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.1008A>C
ENST00000491889.6:c.*1813A>C ENSP00000419914.1:n.*1813A>C
ENST00000645252.2:n.892A>C
ENST00000682749.1:c.1985A>C ENSP00000507306.1:p.Gln662Pro
ENST00000682846.1:c.132-26540A>C ENSP00000507527.1:n.132-26540A>C
ENST00000682864.1:n.949A>C
ENST00000381971.8:c.2450A>C MANE Select ENSP00000371398.3:p.Gln817Pro
ENST00000645252.1:n.892A>C
ENST00000324333.14:c.1985A>C ENSP00000325494.10:p.Gln662Pro
ENST00000381971.7:c.2450A>C ENSP00000371398.3:p.Gln817Pro
ENST00000461870.5:n.806A>C
ENST00000467497.6:n.990A>C
NM_001042413.1:c.2450A>C NP_001035878.1:p.Gln817Pro
NM_152629.3:c.1985A>C NP_689842.3:p.Gln662Pro
XM_005251386.3:c.1985A>C XP_005251443.1:p.Gln662Pro
XM_005251387.3:c.1784A>C XP_005251444.1:p.Gln595Pro
XM_005251388.3:c.1784A>C XP_005251445.1:p.Gln595Pro
XM_011517763.1:c.2450A>C XP_011516065.1:p.Gln817Pro
XM_011517764.1:c.2450A>C XP_011516066.1:p.Gln817Pro
XM_011517765.1:c.2450A>C XP_011516067.1:p.Gln817Pro
XM_011517766.1:c.1985A>C XP_011516068.1:p.Gln662Pro
XM_011517767.1:c.1784A>C XP_011516069.1:p.Gln595Pro
XM_005251386.4:c.1985A>C XP_005251443.1:p.Gln662Pro
XM_005251387.4:c.1784A>C XP_005251444.1:p.Gln595Pro
XM_005251388.4:c.1784A>C XP_005251445.1:p.Gln595Pro
XM_011517763.2:c.2450A>C XP_011516065.1:p.Gln817Pro
XM_011517764.2:c.2450A>C XP_011516066.1:p.Gln817Pro
XM_011517765.2:c.2450A>C XP_011516067.1:p.Gln817Pro
XM_011517766.2:c.1985A>C XP_011516068.1:p.Gln662Pro
XM_011517767.3:c.1784A>C XP_011516069.1:p.Gln595Pro
XM_017014361.1:c.1985A>C XP_016869850.1:p.Gln662Pro
NM_001042413.2:c.2450A>C MANE Select NP_001035878.1:p.Gln817Pro
NM_152629.4:c.1985A>C NP_689842.3:p.Gln662Pro