Canonical Allele Identifier: CA4968388
Gene: GLIS3 HGNC NCBI

Linked Data

dbSNP Id: rs772528742
gnomAD v2: 9-4118622-G-A
gnomAD v3: 9-4118622-G-A
gnomAD v4: 9-4118622-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4118622G>A , CM000671.2:g.4118622G>A GRCh38
NC_000009.11:g.4118622G>A , CM000671.1:g.4118622G>A GRCh37
NC_000009.10:g.4108622G>A NCBI36
NG_011782.1:g.186414C>T
NG_011782.2:g.186414C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000491889.6:c.*219C>T ENSP00000419914.1:n.*219C>T
ENST00000645252.2:n.152+32318C>T
ENST00000682749.1:c.391C>T ENSP00000507306.1:p.Pro131Ser
ENST00000682846.1:c.131+7112C>T ENSP00000507527.1:n.131+7112C>T
ENST00000381971.8:c.856C>T MANE Select ENSP00000371398.3:p.Pro286Ser
ENST00000645252.1:n.152+32318C>T
ENST00000324333.14:c.391C>T ENSP00000325494.10:p.Pro131Ser
ENST00000381971.7:c.856C>T ENSP00000371398.3:p.Pro286Ser
ENST00000490709.1:n.676C>T
NM_001042413.1:c.856C>T NP_001035878.1:p.Pro286Ser
NM_152629.3:c.391C>T NP_689842.3:p.Pro131Ser
XM_005251386.3:c.391C>T XP_005251443.1:p.Pro131Ser
XM_005251387.3:c.190C>T XP_005251444.1:p.Pro64Ser
XM_005251388.3:c.190C>T XP_005251445.1:p.Pro64Ser
XM_005251389.3:c.856C>T XP_005251446.1:p.Pro286Ser
XM_006716731.2:c.856C>T XP_006716794.1:p.Pro286Ser
XM_011517763.1:c.856C>T XP_011516065.1:p.Pro286Ser
XM_011517764.1:c.856C>T XP_011516066.1:p.Pro286Ser
XM_011517765.1:c.856C>T XP_011516067.1:p.Pro286Ser
XM_011517766.1:c.391C>T XP_011516068.1:p.Pro131Ser
XM_011517767.1:c.190C>T XP_011516069.1:p.Pro64Ser
XM_011517768.1:c.856C>T XP_011516070.1:p.Pro286Ser
XM_011517769.1:c.856C>T XP_011516071.1:p.Pro286Ser
XR_929206.1:n.1622C>T
XM_005251386.4:c.391C>T XP_005251443.1:p.Pro131Ser
XM_005251387.4:c.190C>T XP_005251444.1:p.Pro64Ser
XM_005251388.4:c.190C>T XP_005251445.1:p.Pro64Ser
XM_005251389.5:c.856C>T XP_005251446.1:p.Pro286Ser
XM_006716731.3:c.856C>T XP_006716794.1:p.Pro286Ser
XM_011517763.2:c.856C>T XP_011516065.1:p.Pro286Ser
XM_011517764.2:c.856C>T XP_011516066.1:p.Pro286Ser
XM_011517765.2:c.856C>T XP_011516067.1:p.Pro286Ser
XM_011517766.2:c.391C>T XP_011516068.1:p.Pro131Ser
XM_011517767.3:c.190C>T XP_011516069.1:p.Pro64Ser
XM_011517769.2:c.856C>T XP_011516071.1:p.Pro286Ser
XM_017014361.1:c.391C>T XP_016869850.1:p.Pro131Ser
XR_929206.2:n.1618C>T
NM_001042413.2:c.856C>T MANE Select NP_001035878.1:p.Pro286Ser
NM_152629.4:c.391C>T NP_689842.3:p.Pro131Ser