Canonical Allele Identifier: CA340728992

Gene: IL23R

Linked Data

• dbSNP Id: rs1653095552
• gnomAD v4: 1-67258880-G-A
• MyVariant Identifiers: chr1:g.67724563G>A (hg19) ; chr1:g.67258880G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258880G>A , CM000663.2:g.67258880G>A	GRCh38
NC_000001.10:g.67724563G>A , CM000663.1:g.67724563G>A	GRCh37
NC_000001.9:g.67497151G>A	NCBI36
NG_011498.1:g.97395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1481G>A	ENSP00000513138.1:n.1481G>A
ENST00000697150.1:c.1539G>A	ENSP00000513139.1:n.1539G>A
ENST00000697151.1:c.1472G>A	ENSP00000513140.1:n.1472G>A
ENST00000697164.1:c.1552G>A	ENSP00000513153.1:p.Glu518Lys
ENST00000697165.1:c.1339G>A	ENSP00000513154.1:p.Glu447Lys
ENST00000347310.10:c.1642G>A MANE Select	ENSP00000321345.5:p.Glu548Lys
ENST00000637002.1:c.1033G>A	ENSP00000490340.1:p.Glu345Lys
ENST00000347310.9:c.1642G>A	ENSP00000321345.5:p.Glu548Lys
ENST00000395227.2:c.436G>A	ENSP00000378652.2:p.Glu146Lys
ENST00000425614.3:c.877G>A	ENSP00000387640.2:p.Glu293Lys
ENST00000473881.2:c.*468G>A	ENSP00000486667.1:n.*468G>A
NM_144701.2:c.1642G>A	NP_653302.2:p.Glu548Lys
XM_005270516.2:c.880G>A	XP_005270573.1:p.Glu294Lys
XM_011540789.1:c.1732G>A	XP_011539091.1:p.Glu578Lys
XM_011540790.1:c.1642G>A	XP_011539092.1:p.Glu548Lys
XM_011540791.1:c.1642G>A	XP_011539093.1:p.Glu548Lys
XM_011540790.3:c.1642G>A	XP_011539092.1:p.Glu548Lys
XM_011540791.3:c.1642G>A	XP_011539093.1:p.Glu548Lys
XR_001736993.1:n.1722G>A
NM_144701.3:c.1642G>A MANE Select	NP_653302.2:p.Glu548Lys