Canonical Allele Identifier: CA863792101

Gene: GLIS3

Linked Data

• ClinVar Variation Id: 913750
• ClinVar RCV Id: RCV001167542
• dbSNP Id: rs1428498369
• gnomAD v3: 9-3824508-C-T
• gnomAD v4: 9-3824508-C-T
• MyVariant Identifiers: chr9:g.3824508C>T (hg19) ; chr9:g.3824508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3824508C>T , CM000671.2:g.3824508C>T	GRCh38
NC_000009.11:g.3824508C>T , CM000671.1:g.3824508C>T	GRCh37
NC_000009.10:g.3814508C>T	NCBI36
NG_011782.1:g.480528G>A
NG_011782.2:g.480528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*5920G>A	ENSP00000419914.1:n.*5920G>A
ENST00000682749.1:c.*3764G>A	ENSP00000507306.1:n.*3764G>A
ENST00000682864.1:n.5056G>A
ENST00000381971.8:c.*3764G>A MANE Select	ENSP00000371398.3:n.*3764G>A
ENST00000324333.14:c.*3764G>A	ENSP00000325494.10:n.*3764G>A
NM_001042413.1:c.*3764G>A	NP_001035878.1:n.*3764G>A
NM_152629.3:c.*3764G>A	NP_689842.3:n.*3764G>A
XM_005251386.3:c.*3764G>A	XP_005251443.1:n.*3764G>A
XM_005251387.3:c.*3764G>A	XP_005251444.1:n.*3764G>A
XM_005251388.3:c.*3764G>A	XP_005251445.1:n.*3764G>A
XM_011517763.1:c.*3764G>A	XP_011516065.1:n.*3764G>A
XM_011517764.1:c.*3764G>A	XP_011516066.1:n.*3764G>A
XM_011517766.1:c.*3764G>A	XP_011516068.1:n.*3764G>A
XM_011517767.1:c.*3764G>A	XP_011516069.1:n.*3764G>A
XM_005251386.4:c.*3764G>A	XP_005251443.1:n.*3764G>A
XM_005251387.4:c.*3764G>A	XP_005251444.1:n.*3764G>A
XM_005251388.4:c.*3764G>A	XP_005251445.1:n.*3764G>A
XM_011517763.2:c.*3764G>A	XP_011516065.1:n.*3764G>A
XM_011517764.2:c.*3764G>A	XP_011516066.1:n.*3764G>A
XM_011517766.2:c.*3764G>A	XP_011516068.1:n.*3764G>A
XM_011517767.3:c.*3764G>A	XP_011516069.1:n.*3764G>A
XM_017014361.1:c.*3764G>A	XP_016869850.1:n.*3764G>A
NM_001042413.2:c.*3764G>A MANE Select	NP_001035878.1:n.*3764G>A
NM_152629.4:c.*3764G>A	NP_689842.3:n.*3764G>A