Canonical Allele Identifier: CA188253667

Gene: GLIS3

Linked Data

• ClinVar Variation Id: 913747
• ClinVar RCV Id: RCV001167539
• dbSNP Id: rs182391240
• gnomAD v2: 9-3824255-A-G
• gnomAD v3: 9-3824255-A-G
• gnomAD v4: 9-3824255-A-G
• MyVariant Identifiers: chr9:g.3824255A>G (hg19) ; chr9:g.3824255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3824255A>G , CM000671.2:g.3824255A>G	GRCh38
NC_000009.11:g.3824255A>G , CM000671.1:g.3824255A>G	GRCh37
NC_000009.10:g.3814255A>G	NCBI36
NG_011782.1:g.480781T>C
NG_011782.2:g.480781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000491889.6:c.*6173T>C	ENSP00000419914.1:n.*6173T>C
ENST00000682749.1:c.*4017T>C	ENSP00000507306.1:n.*4017T>C
ENST00000381971.8:c.*4017T>C MANE Select	ENSP00000371398.3:n.*4017T>C
ENST00000324333.14:c.*4017T>C	ENSP00000325494.10:n.*4017T>C
NM_001042413.1:c.*4017T>C	NP_001035878.1:n.*4017T>C
NM_152629.3:c.*4017T>C	NP_689842.3:n.*4017T>C
XM_005251386.3:c.*4017T>C	XP_005251443.1:n.*4017T>C
XM_005251387.3:c.*4017T>C	XP_005251444.1:n.*4017T>C
XM_005251388.3:c.*4017T>C	XP_005251445.1:n.*4017T>C
XM_011517763.1:c.*4017T>C	XP_011516065.1:n.*4017T>C
XM_011517764.1:c.*4017T>C	XP_011516066.1:n.*4017T>C
XM_011517766.1:c.*4017T>C	XP_011516068.1:n.*4017T>C
XM_011517767.1:c.*4017T>C	XP_011516069.1:n.*4017T>C
XM_005251386.4:c.*4017T>C	XP_005251443.1:n.*4017T>C
XM_005251387.4:c.*4017T>C	XP_005251444.1:n.*4017T>C
XM_005251388.4:c.*4017T>C	XP_005251445.1:n.*4017T>C
XM_011517763.2:c.*4017T>C	XP_011516065.1:n.*4017T>C
XM_011517764.2:c.*4017T>C	XP_011516066.1:n.*4017T>C
XM_011517766.2:c.*4017T>C	XP_011516068.1:n.*4017T>C
XM_011517767.3:c.*4017T>C	XP_011516069.1:n.*4017T>C
XM_017014361.1:c.*4017T>C	XP_016869850.1:n.*4017T>C
NM_001042413.2:c.*4017T>C MANE Select	NP_001035878.1:n.*4017T>C
NM_152629.4:c.*4017T>C	NP_689842.3:n.*4017T>C