Canonical Allele Identifier: CA372805483

Gene: GLIS3

Linked Data

• dbSNP Id: rs1287059738
• gnomAD v3: 9-3856125-G-A
• gnomAD v4: 9-3856125-G-A
• MyVariant Identifiers: chr9:g.3856125G>A (hg19) ; chr9:g.3856125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856125G>A , CM000671.2:g.3856125G>A	GRCh38
NC_000009.11:g.3856125G>A , CM000671.1:g.3856125G>A	GRCh37
NC_000009.10:g.3846125G>A	NCBI36
NG_011782.1:g.448911C>T
NG_011782.2:g.448911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.915C>T
ENST00000491889.6:c.*1720C>T	ENSP00000419914.1:n.*1720C>T
ENST00000645252.2:n.799C>T
ENST00000682749.1:c.1892C>T	ENSP00000507306.1:p.Ser631Phe
ENST00000682846.1:c.132-26633C>T	ENSP00000507527.1:n.132-26633C>T
ENST00000682864.1:n.856C>T
ENST00000381971.8:c.2357C>T MANE Select	ENSP00000371398.3:p.Ser786Phe
ENST00000645252.1:n.799C>T
ENST00000324333.14:c.1892C>T	ENSP00000325494.10:p.Ser631Phe
ENST00000381971.7:c.2357C>T	ENSP00000371398.3:p.Ser786Phe
ENST00000461870.5:n.713C>T
ENST00000467497.6:n.897C>T
NM_001042413.1:c.2357C>T	NP_001035878.1:p.Ser786Phe
NM_152629.3:c.1892C>T	NP_689842.3:p.Ser631Phe
XM_005251386.3:c.1892C>T	XP_005251443.1:p.Ser631Phe
XM_005251387.3:c.1691C>T	XP_005251444.1:p.Ser564Phe
XM_005251388.3:c.1691C>T	XP_005251445.1:p.Ser564Phe
XM_011517763.1:c.2357C>T	XP_011516065.1:p.Ser786Phe
XM_011517764.1:c.2357C>T	XP_011516066.1:p.Ser786Phe
XM_011517765.1:c.2357C>T	XP_011516067.1:p.Ser786Phe
XM_011517766.1:c.1892C>T	XP_011516068.1:p.Ser631Phe
XM_011517767.1:c.1691C>T	XP_011516069.1:p.Ser564Phe
XM_005251386.4:c.1892C>T	XP_005251443.1:p.Ser631Phe
XM_005251387.4:c.1691C>T	XP_005251444.1:p.Ser564Phe
XM_005251388.4:c.1691C>T	XP_005251445.1:p.Ser564Phe
XM_011517763.2:c.2357C>T	XP_011516065.1:p.Ser786Phe
XM_011517764.2:c.2357C>T	XP_011516066.1:p.Ser786Phe
XM_011517765.2:c.2357C>T	XP_011516067.1:p.Ser786Phe
XM_011517766.2:c.1892C>T	XP_011516068.1:p.Ser631Phe
XM_011517767.3:c.1691C>T	XP_011516069.1:p.Ser564Phe
XM_017014361.1:c.1892C>T	XP_016869850.1:p.Ser631Phe
NM_001042413.2:c.2357C>T MANE Select	NP_001035878.1:p.Ser786Phe
NM_152629.4:c.1892C>T	NP_689842.3:p.Ser631Phe