Canonical Allele Identifier: CA586128037
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs1427238622
gnomAD v2: 9-3932503-G-C
gnomAD v3: 9-3932503-G-C
gnomAD v4: 9-3932503-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3932503G>C , CM000671.2:g.3932503G>C GRCh38
NC_000009.11:g.3932503G>C , CM000671.1:g.3932503G>C GRCh37
NC_000009.10:g.3922503G>C NCBI36
NG_011782.1:g.372533C>G
NG_011782.2:g.372533C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000463680.6:n.163-33C>G
ENST00000464391.2:n.431-33C>G
ENST00000491889.6:c.*1236-33C>G ENSP00000419914.1:n.*1236-33C>G
ENST00000645252.2:n.315-33C>G
ENST00000682749.1:c.1408-33C>G ENSP00000507306.1:n.1408-33C>G
ENST00000682846.1:c.132-103011C>G ENSP00000507527.1:n.132-103011C>G
ENST00000682864.1:n.397-58C>G
ENST00000381971.8:c.1873-33C>G MANE Select ENSP00000371398.3:n.1873-33C>G
ENST00000645252.1:n.315-33C>G
ENST00000324333.14:c.1408-33C>G ENSP00000325494.10:n.1408-33C>G
ENST00000381971.7:c.1873-33C>G ENSP00000371398.3:n.1873-33C>G
ENST00000461870.5:n.229-33C>G
ENST00000463680.5:n.163-33C>G
ENST00000464391.1:n.421-33C>G
ENST00000467497.6:n.413-33C>G
NM_001042413.1:c.1873-33C>G NP_001035878.1:n.1873-33C>G
NM_152629.3:c.1408-33C>G NP_689842.3:n.1408-33C>G
XM_005251386.3:c.1408-33C>G XP_005251443.1:n.1408-33C>G
XM_005251387.3:c.1207-33C>G XP_005251444.1:n.1207-33C>G
XM_005251388.3:c.1207-33C>G XP_005251445.1:n.1207-33C>G
XM_011517763.1:c.1873-33C>G XP_011516065.1:n.1873-33C>G
XM_011517764.1:c.1873-33C>G XP_011516066.1:n.1873-33C>G
XM_011517765.1:c.1873-33C>G XP_011516067.1:n.1873-33C>G
XM_011517766.1:c.1408-33C>G XP_011516068.1:n.1408-33C>G
XM_011517767.1:c.1207-33C>G XP_011516069.1:n.1207-33C>G
XM_005251386.4:c.1408-33C>G XP_005251443.1:n.1408-33C>G
XM_005251387.4:c.1207-33C>G XP_005251444.1:n.1207-33C>G
XM_005251388.4:c.1207-33C>G XP_005251445.1:n.1207-33C>G
XM_011517763.2:c.1873-33C>G XP_011516065.1:n.1873-33C>G
XM_011517764.2:c.1873-33C>G XP_011516066.1:n.1873-33C>G
XM_011517765.2:c.1873-33C>G XP_011516067.1:n.1873-33C>G
XM_011517766.2:c.1408-33C>G XP_011516068.1:n.1408-33C>G
XM_011517767.3:c.1207-33C>G XP_011516069.1:n.1207-33C>G
XM_017014361.1:c.1408-33C>G XP_016869850.1:n.1408-33C>G
NM_001042413.2:c.1873-33C>G MANE Select NP_001035878.1:n.1873-33C>G
NM_152629.4:c.1408-33C>G NP_689842.3:n.1408-33C>G