Canonical Allele Identifier: CA372805526
Gene: GLIS3 HGNC NCBI

Linked Data

gnomAD v4: 9-3856149-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856149C>A , CM000671.2:g.3856149C>A GRCh38
NC_000009.11:g.3856149C>A , CM000671.1:g.3856149C>A GRCh37
NC_000009.10:g.3846149C>A NCBI36
NG_011782.1:g.448887G>T
NG_011782.2:g.448887G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000464391.2:n.891G>T
ENST00000491889.6:c.*1696G>T ENSP00000419914.1:n.*1696G>T
ENST00000645252.2:n.775G>T
ENST00000682749.1:c.1868G>T ENSP00000507306.1:p.Ser623Ile
ENST00000682846.1:c.132-26657G>T ENSP00000507527.1:n.132-26657G>T
ENST00000682864.1:n.832G>T
ENST00000381971.8:c.2333G>T MANE Select ENSP00000371398.3:p.Ser778Ile
ENST00000645252.1:n.775G>T
ENST00000324333.14:c.1868G>T ENSP00000325494.10:p.Ser623Ile
ENST00000381971.7:c.2333G>T ENSP00000371398.3:p.Ser778Ile
ENST00000461870.5:n.689G>T
ENST00000467497.6:n.873G>T
NM_001042413.1:c.2333G>T NP_001035878.1:p.Ser778Ile
NM_152629.3:c.1868G>T NP_689842.3:p.Ser623Ile
XM_005251386.3:c.1868G>T XP_005251443.1:p.Ser623Ile
XM_005251387.3:c.1667G>T XP_005251444.1:p.Ser556Ile
XM_005251388.3:c.1667G>T XP_005251445.1:p.Ser556Ile
XM_011517763.1:c.2333G>T XP_011516065.1:p.Ser778Ile
XM_011517764.1:c.2333G>T XP_011516066.1:p.Ser778Ile
XM_011517765.1:c.2333G>T XP_011516067.1:p.Ser778Ile
XM_011517766.1:c.1868G>T XP_011516068.1:p.Ser623Ile
XM_011517767.1:c.1667G>T XP_011516069.1:p.Ser556Ile
XM_005251386.4:c.1868G>T XP_005251443.1:p.Ser623Ile
XM_005251387.4:c.1667G>T XP_005251444.1:p.Ser556Ile
XM_005251388.4:c.1667G>T XP_005251445.1:p.Ser556Ile
XM_011517763.2:c.2333G>T XP_011516065.1:p.Ser778Ile
XM_011517764.2:c.2333G>T XP_011516066.1:p.Ser778Ile
XM_011517765.2:c.2333G>T XP_011516067.1:p.Ser778Ile
XM_011517766.2:c.1868G>T XP_011516068.1:p.Ser623Ile
XM_011517767.3:c.1667G>T XP_011516069.1:p.Ser556Ile
XM_017014361.1:c.1868G>T XP_016869850.1:p.Ser623Ile
NM_001042413.2:c.2333G>T MANE Select NP_001035878.1:p.Ser778Ile
NM_152629.4:c.1868G>T NP_689842.3:p.Ser623Ile