Canonical Allele Identifier: CA4967808
Gene: GLIS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 747699
dbSNP Id: rs563920093
gnomAD v2: 9-3856061-G-C
gnomAD v3: 9-3856061-G-C
gnomAD v4: 9-3856061-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.3856061G>C , CM000671.2:g.3856061G>C GRCh38
NC_000009.11:g.3856061G>C , CM000671.1:g.3856061G>C GRCh37
NC_000009.10:g.3846061G>C NCBI36
NG_011782.1:g.448975C>G
NG_011782.2:g.448975C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000464391.2:n.979C>G
ENST00000491889.6:c.*1784C>G ENSP00000419914.1:n.*1784C>G
ENST00000645252.2:n.863C>G
ENST00000682749.1:c.1956C>G ENSP00000507306.1:p.Ser652=
ENST00000682846.1:c.132-26569C>G ENSP00000507527.1:n.132-26569C>G
ENST00000682864.1:n.920C>G
ENST00000381971.8:c.2421C>G MANE Select ENSP00000371398.3:p.Ser807=
ENST00000645252.1:n.863C>G
ENST00000324333.14:c.1956C>G ENSP00000325494.10:p.Ser652=
ENST00000381971.7:c.2421C>G ENSP00000371398.3:p.Ser807=
ENST00000461870.5:n.777C>G
ENST00000467497.6:n.961C>G
NM_001042413.1:c.2421C>G NP_001035878.1:p.Ser807=
NM_152629.3:c.1956C>G NP_689842.3:p.Ser652=
XM_005251386.3:c.1956C>G XP_005251443.1:p.Ser652=
XM_005251387.3:c.1755C>G XP_005251444.1:p.Ser585=
XM_005251388.3:c.1755C>G XP_005251445.1:p.Ser585=
XM_011517763.1:c.2421C>G XP_011516065.1:p.Ser807=
XM_011517764.1:c.2421C>G XP_011516066.1:p.Ser807=
XM_011517765.1:c.2421C>G XP_011516067.1:p.Ser807=
XM_011517766.1:c.1956C>G XP_011516068.1:p.Ser652=
XM_011517767.1:c.1755C>G XP_011516069.1:p.Ser585=
XM_005251386.4:c.1956C>G XP_005251443.1:p.Ser652=
XM_005251387.4:c.1755C>G XP_005251444.1:p.Ser585=
XM_005251388.4:c.1755C>G XP_005251445.1:p.Ser585=
XM_011517763.2:c.2421C>G XP_011516065.1:p.Ser807=
XM_011517764.2:c.2421C>G XP_011516066.1:p.Ser807=
XM_011517765.2:c.2421C>G XP_011516067.1:p.Ser807=
XM_011517766.2:c.1956C>G XP_011516068.1:p.Ser652=
XM_011517767.3:c.1755C>G XP_011516069.1:p.Ser585=
XM_017014361.1:c.1956C>G XP_016869850.1:p.Ser652=
NM_001042413.2:c.2421C>G MANE Select NP_001035878.1:p.Ser807=
NM_152629.4:c.1956C>G NP_689842.3:p.Ser652=