Canonical Allele Identifier: CA10586166
Gene: GLIS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 253044
ClinVar RCV Id: RCV000239596
dbSNP Id: rs868197660

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4117797G>A , CM000671.2:g.4117797G>A GRCh38
NC_000009.11:g.4117797G>A , CM000671.1:g.4117797G>A GRCh37
NC_000009.10:g.4107797G>A NCBI36
NG_011782.1:g.187239C>T
NG_011782.2:g.187239C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381971.8:c.1681C>T MANE Select ENSP00000371398.3:p.His561Tyr
ENST00000645252.1:n.152+33143C>T
ENST00000324333.14:c.1216C>T ENSP00000325494.10:p.His406Tyr
ENST00000381971.7:c.1681C>T ENSP00000371398.3:p.His561Tyr
ENST00000467497.6:n.221C>T
NM_001042413.1:c.1681C>T NP_001035878.1:p.His561Tyr
NM_152629.3:c.1216C>T NP_689842.3:p.His406Tyr
XM_005251386.3:c.1216C>T XP_005251443.1:p.His406Tyr
XM_005251387.3:c.1015C>T XP_005251444.1:p.His339Tyr
XM_005251388.3:c.1015C>T XP_005251445.1:p.His339Tyr
XM_005251389.3:c.1681C>T XP_005251446.1:p.His561Tyr
XM_006716731.2:c.1681C>T XP_006716794.1:p.His561Tyr
XM_011517763.1:c.1681C>T XP_011516065.1:p.His561Tyr
XM_011517764.1:c.1681C>T XP_011516066.1:p.His561Tyr
XM_011517765.1:c.1681C>T XP_011516067.1:p.His561Tyr
XM_011517766.1:c.1216C>T XP_011516068.1:p.His406Tyr
XM_011517767.1:c.1015C>T XP_011516069.1:p.His339Tyr
XM_011517768.1:c.1681C>T XP_011516070.1:p.His561Tyr
XM_011517769.1:c.1681C>T XP_011516071.1:p.His561Tyr
XR_929206.1:n.2447C>T
XM_005251386.4:c.1216C>T XP_005251443.1:p.His406Tyr
XM_005251387.4:c.1015C>T XP_005251444.1:p.His339Tyr
XM_005251388.4:c.1015C>T XP_005251445.1:p.His339Tyr
XM_005251389.5:c.1681C>T XP_005251446.1:p.His561Tyr
XM_006716731.3:c.1681C>T XP_006716794.1:p.His561Tyr
XM_011517763.2:c.1681C>T XP_011516065.1:p.His561Tyr
XM_011517764.2:c.1681C>T XP_011516066.1:p.His561Tyr
XM_011517765.2:c.1681C>T XP_011516067.1:p.His561Tyr
XM_011517766.2:c.1216C>T XP_011516068.1:p.His406Tyr
XM_011517767.3:c.1015C>T XP_011516069.1:p.His339Tyr
XM_011517769.2:c.1681C>T XP_011516071.1:p.His561Tyr
XM_017014361.1:c.1216C>T XP_016869850.1:p.His406Tyr
XR_929206.2:n.2443C>T
NM_001042413.2:c.1681C>T MANE Select NP_001035878.1:p.His561Tyr
NM_152629.4:c.1216C>T NP_689842.3:p.His406Tyr