Canonical Allele Identifier: CA4967818
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs187615896
gnomAD v2: 9-3856122-G-A
gnomAD v4: 9-3856122-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856122G>A , CM000671.2:g.3856122G>A GRCh38
NC_000009.11:g.3856122G>A , CM000671.1:g.3856122G>A GRCh37
NC_000009.10:g.3846122G>A NCBI36
NG_011782.1:g.448914C>T
NG_011782.2:g.448914C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000464391.2:n.918C>T
ENST00000491889.6:c.*1723C>T ENSP00000419914.1:n.*1723C>T
ENST00000645252.2:n.802C>T
ENST00000682749.1:c.1895C>T ENSP00000507306.1:p.Ser632Leu
ENST00000682846.1:c.132-26630C>T ENSP00000507527.1:n.132-26630C>T
ENST00000682864.1:n.859C>T
ENST00000381971.8:c.2360C>T MANE Select ENSP00000371398.3:p.Ser787Leu
ENST00000645252.1:n.802C>T
ENST00000324333.14:c.1895C>T ENSP00000325494.10:p.Ser632Leu
ENST00000381971.7:c.2360C>T ENSP00000371398.3:p.Ser787Leu
ENST00000461870.5:n.716C>T
ENST00000467497.6:n.900C>T
NM_001042413.1:c.2360C>T NP_001035878.1:p.Ser787Leu
NM_152629.3:c.1895C>T NP_689842.3:p.Ser632Leu
XM_005251386.3:c.1895C>T XP_005251443.1:p.Ser632Leu
XM_005251387.3:c.1694C>T XP_005251444.1:p.Ser565Leu
XM_005251388.3:c.1694C>T XP_005251445.1:p.Ser565Leu
XM_011517763.1:c.2360C>T XP_011516065.1:p.Ser787Leu
XM_011517764.1:c.2360C>T XP_011516066.1:p.Ser787Leu
XM_011517765.1:c.2360C>T XP_011516067.1:p.Ser787Leu
XM_011517766.1:c.1895C>T XP_011516068.1:p.Ser632Leu
XM_011517767.1:c.1694C>T XP_011516069.1:p.Ser565Leu
XM_005251386.4:c.1895C>T XP_005251443.1:p.Ser632Leu
XM_005251387.4:c.1694C>T XP_005251444.1:p.Ser565Leu
XM_005251388.4:c.1694C>T XP_005251445.1:p.Ser565Leu
XM_011517763.2:c.2360C>T XP_011516065.1:p.Ser787Leu
XM_011517764.2:c.2360C>T XP_011516066.1:p.Ser787Leu
XM_011517765.2:c.2360C>T XP_011516067.1:p.Ser787Leu
XM_011517766.2:c.1895C>T XP_011516068.1:p.Ser632Leu
XM_011517767.3:c.1694C>T XP_011516069.1:p.Ser565Leu
XM_017014361.1:c.1895C>T XP_016869850.1:p.Ser632Leu
NM_001042413.2:c.2360C>T MANE Select NP_001035878.1:p.Ser787Leu
NM_152629.4:c.1895C>T NP_689842.3:p.Ser632Leu