Canonical Allele Identifier: CA372845344

Gene: GLIS3

Linked Data

• MyVariant Identifiers: chr9:g.3932378C>G (hg19) ; chr9:g.3932378C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932378C>G , CM000671.2:g.3932378C>G	GRCh38
NC_000009.11:g.3932378C>G , CM000671.1:g.3932378C>G	GRCh37
NC_000009.10:g.3922378C>G	NCBI36
NG_011782.1:g.372658G>C
NG_011782.2:g.372658G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.255G>C
ENST00000464391.2:n.523G>C
ENST00000491889.6:c.*1328G>C	ENSP00000419914.1:n.*1328G>C
ENST00000645252.2:n.407G>C
ENST00000682749.1:c.1500G>C	ENSP00000507306.1:p.Glu500Asp
ENST00000682846.1:c.132-102886G>C	ENSP00000507527.1:n.132-102886G>C
ENST00000682864.1:n.464G>C
ENST00000381971.8:c.1965G>C MANE Select	ENSP00000371398.3:p.Glu655Asp
ENST00000645252.1:n.407G>C
ENST00000324333.14:c.1500G>C	ENSP00000325494.10:p.Glu500Asp
ENST00000381971.7:c.1965G>C	ENSP00000371398.3:p.Glu655Asp
ENST00000461870.5:n.321G>C
ENST00000463680.5:n.255G>C
ENST00000464391.1:n.513G>C
ENST00000467497.6:n.505G>C
NM_001042413.1:c.1965G>C	NP_001035878.1:p.Glu655Asp
NM_152629.3:c.1500G>C	NP_689842.3:p.Glu500Asp
XM_005251386.3:c.1500G>C	XP_005251443.1:p.Glu500Asp
XM_005251387.3:c.1299G>C	XP_005251444.1:p.Glu433Asp
XM_005251388.3:c.1299G>C	XP_005251445.1:p.Glu433Asp
XM_011517763.1:c.1965G>C	XP_011516065.1:p.Glu655Asp
XM_011517764.1:c.1965G>C	XP_011516066.1:p.Glu655Asp
XM_011517765.1:c.1965G>C	XP_011516067.1:p.Glu655Asp
XM_011517766.1:c.1500G>C	XP_011516068.1:p.Glu500Asp
XM_011517767.1:c.1299G>C	XP_011516069.1:p.Glu433Asp
XM_005251386.4:c.1500G>C	XP_005251443.1:p.Glu500Asp
XM_005251387.4:c.1299G>C	XP_005251444.1:p.Glu433Asp
XM_005251388.4:c.1299G>C	XP_005251445.1:p.Glu433Asp
XM_011517763.2:c.1965G>C	XP_011516065.1:p.Glu655Asp
XM_011517764.2:c.1965G>C	XP_011516066.1:p.Glu655Asp
XM_011517765.2:c.1965G>C	XP_011516067.1:p.Glu655Asp
XM_011517766.2:c.1500G>C	XP_011516068.1:p.Glu500Asp
XM_011517767.3:c.1299G>C	XP_011516069.1:p.Glu433Asp
XM_017014361.1:c.1500G>C	XP_016869850.1:p.Glu500Asp
NM_001042413.2:c.1965G>C MANE Select	NP_001035878.1:p.Glu655Asp
NM_152629.4:c.1500G>C	NP_689842.3:p.Glu500Asp