Canonical Allele Identifier: CA10633759

Gene: GLIS3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3827561G>C , CM000671.2:g.3827561G>C	GRCh38
NC_000009.11:g.3827561G>C , CM000671.1:g.3827561G>C	GRCh37
NC_000009.10:g.3817561G>C	NCBI36
NG_011782.1:g.477475C>G
NG_011782.2:g.477475C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042413.2:c.*711C>G MANE Select	NP_001035878.1:n.*711C>G
ENST00000381971.8:c.*711C>G MANE Select	ENSP00000371398.3:n.*711C>G
NM_001042413.1:c.*711C>G	NP_001035878.1:n.*711C>G
NM_152629.3:c.*711C>G	NP_689842.3:n.*711C>G
NM_152629.4:c.*711C>G	NP_689842.3:n.*711C>G
ENST00000324333.14:c.*711C>G	ENSP00000325494.10:n.*711C>G
ENST00000461870.5:n.1860C>G
ENST00000491889.6:c.*2867C>G	ENSP00000419914.1:n.*2867C>G
ENST00000682749.1:c.*711C>G	ENSP00000507306.1:n.*711C>G
ENST00000682864.1:n.2003C>G
ENST00000683926.1:n.4309C>G
XM_005251386.3:c.*711C>G	XP_005251443.1:n.*711C>G
XM_005251386.4:c.*711C>G	XP_005251443.1:n.*711C>G
XM_005251387.3:c.*711C>G	XP_005251444.1:n.*711C>G
XM_005251387.4:c.*711C>G	XP_005251444.1:n.*711C>G
XM_005251388.3:c.*711C>G	XP_005251445.1:n.*711C>G
XM_005251388.4:c.*711C>G	XP_005251445.1:n.*711C>G
XM_011517763.1:c.*711C>G	XP_011516065.1:n.*711C>G
XM_011517763.2:c.*711C>G	XP_011516065.1:n.*711C>G
XM_011517764.1:c.*711C>G	XP_011516066.1:n.*711C>G
XM_011517764.2:c.*711C>G	XP_011516066.1:n.*711C>G
XM_011517766.1:c.*711C>G	XP_011516068.1:n.*711C>G
XM_011517766.2:c.*711C>G	XP_011516068.1:n.*711C>G
XM_011517767.1:c.*711C>G	XP_011516069.1:n.*711C>G
XM_011517767.3:c.*711C>G	XP_011516069.1:n.*711C>G
XM_017014361.1:c.*711C>G	XP_016869850.1:n.*711C>G