Canonical Allele Identifier: CA372805247

Gene: GLIS3

Linked Data

• MyVariant Identifiers: chr9:g.3856012G>C (hg19) ; chr9:g.3856012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3856012G>C , CM000671.2:g.3856012G>C	GRCh38
NC_000009.11:g.3856012G>C , CM000671.1:g.3856012G>C	GRCh37
NC_000009.10:g.3846012G>C	NCBI36
NG_011782.1:g.449024C>G
NG_011782.2:g.449024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464391.2:n.1028C>G
ENST00000491889.6:c.*1833C>G	ENSP00000419914.1:n.*1833C>G
ENST00000645252.2:n.912C>G
ENST00000682749.1:c.2005C>G	ENSP00000507306.1:p.His669Asp
ENST00000682846.1:c.132-26520C>G	ENSP00000507527.1:n.132-26520C>G
ENST00000682864.1:n.969C>G
ENST00000381971.8:c.2470C>G MANE Select	ENSP00000371398.3:p.His824Asp
ENST00000645252.1:n.912C>G
ENST00000324333.14:c.2005C>G	ENSP00000325494.10:p.His669Asp
ENST00000381971.7:c.2470C>G	ENSP00000371398.3:p.His824Asp
ENST00000461870.5:n.826C>G
ENST00000467497.6:n.1010C>G
NM_001042413.1:c.2470C>G	NP_001035878.1:p.His824Asp
NM_152629.3:c.2005C>G	NP_689842.3:p.His669Asp
XM_005251386.3:c.2005C>G	XP_005251443.1:p.His669Asp
XM_005251387.3:c.1804C>G	XP_005251444.1:p.His602Asp
XM_005251388.3:c.1804C>G	XP_005251445.1:p.His602Asp
XM_011517763.1:c.2470C>G	XP_011516065.1:p.His824Asp
XM_011517764.1:c.2470C>G	XP_011516066.1:p.His824Asp
XM_011517765.1:c.2470C>G	XP_011516067.1:p.His824Asp
XM_011517766.1:c.2005C>G	XP_011516068.1:p.His669Asp
XM_011517767.1:c.1804C>G	XP_011516069.1:p.His602Asp
XM_005251386.4:c.2005C>G	XP_005251443.1:p.His669Asp
XM_005251387.4:c.1804C>G	XP_005251444.1:p.His602Asp
XM_005251388.4:c.1804C>G	XP_005251445.1:p.His602Asp
XM_011517763.2:c.2470C>G	XP_011516065.1:p.His824Asp
XM_011517764.2:c.2470C>G	XP_011516066.1:p.His824Asp
XM_011517765.2:c.2470C>G	XP_011516067.1:p.His824Asp
XM_011517766.2:c.2005C>G	XP_011516068.1:p.His669Asp
XM_011517767.3:c.1804C>G	XP_011516069.1:p.His602Asp
XM_017014361.1:c.2005C>G	XP_016869850.1:p.His669Asp
NM_001042413.2:c.2470C>G MANE Select	NP_001035878.1:p.His824Asp
NM_152629.4:c.2005C>G	NP_689842.3:p.His669Asp