Canonical Allele Identifier: CA900029

Gene: IL23R

Linked Data

• dbSNP Id: rs759476112
• ExAC: 1:67724452 C / T
• gnomAD v2: 1-67724452-C-T
• gnomAD v3: 1-67258769-C-T
• gnomAD v4: 1-67258769-C-T
• MyVariant Identifiers: chr1:g.67724452C>T (hg19) ; chr1:g.67258769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258769C>T , CM000663.2:g.67258769C>T	GRCh38
NC_000001.10:g.67724452C>T , CM000663.1:g.67724452C>T	GRCh37
NC_000001.9:g.67497040C>T	NCBI36
NG_011498.1:g.97284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1370C>T	ENSP00000513138.1:n.1370C>T
ENST00000697150.1:c.1428C>T	ENSP00000513139.1:n.1428C>T
ENST00000697151.1:c.1361C>T	ENSP00000513140.1:n.1361C>T
ENST00000697164.1:c.1441C>T	ENSP00000513153.1:p.Pro481Ser
ENST00000697165.1:c.1228C>T	ENSP00000513154.1:p.Pro410Ser
ENST00000347310.10:c.1531C>T MANE Select	ENSP00000321345.5:p.Pro511Ser
ENST00000637002.1:c.922C>T	ENSP00000490340.1:p.Pro308Ser
ENST00000347310.9:c.1531C>T	ENSP00000321345.5:p.Pro511Ser
ENST00000395227.2:c.325C>T	ENSP00000378652.2:p.Pro109Ser
ENST00000425614.3:c.766C>T	ENSP00000387640.2:p.Pro256Ser
ENST00000473881.2:c.*357C>T	ENSP00000486667.1:n.*357C>T
NM_144701.2:c.1531C>T	NP_653302.2:p.Pro511Ser
XM_005270516.2:c.769C>T	XP_005270573.1:p.Pro257Ser
XM_011540789.1:c.1621C>T	XP_011539091.1:p.Pro541Ser
XM_011540790.1:c.1531C>T	XP_011539092.1:p.Pro511Ser
XM_011540791.1:c.1531C>T	XP_011539093.1:p.Pro511Ser
XM_011540790.3:c.1531C>T	XP_011539092.1:p.Pro511Ser
XM_011540791.3:c.1531C>T	XP_011539093.1:p.Pro511Ser
XR_001736993.1:n.1611C>T
NM_144701.3:c.1531C>T MANE Select	NP_653302.2:p.Pro511Ser