Canonical Allele Identifier: CA900065

Gene: IL23R

Linked Data

• dbSNP Id: rs779703262
• ExAC: 1:67724794 T / C
• gnomAD v2: 1-67724794-T-C
• gnomAD v3: 1-67259111-T-C
• gnomAD v4: 1-67259111-T-C
• MyVariant Identifiers: chr1:g.67724794T>C (hg19) ; chr1:g.67259111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67259111T>C , CM000663.2:g.67259111T>C	GRCh38
NC_000001.10:g.67724794T>C , CM000663.1:g.67724794T>C	GRCh37
NC_000001.9:g.67497382T>C	NCBI36
NG_011498.1:g.97626T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697149.1:c.1712T>C	ENSP00000513138.1:n.1712T>C
ENST00000697150.1:c.1770T>C	ENSP00000513139.1:n.1770T>C
ENST00000697151.1:c.1703T>C	ENSP00000513140.1:n.1703T>C
ENST00000697164.1:c.1783T>C	ENSP00000513153.1:p.Ser595Pro
ENST00000697165.1:c.1570T>C	ENSP00000513154.1:p.Ser524Pro
ENST00000347310.10:c.1873T>C MANE Select	ENSP00000321345.5:p.Ser625Pro
ENST00000637002.1:c.1264T>C	ENSP00000490340.1:p.Ser422Pro
ENST00000347310.9:c.1873T>C	ENSP00000321345.5:p.Ser625Pro
ENST00000395227.2:c.667T>C	ENSP00000378652.2:p.Ser223Pro
ENST00000425614.3:c.1108T>C	ENSP00000387640.2:p.Ser370Pro
ENST00000473881.2:c.*699T>C	ENSP00000486667.1:n.*699T>C
NM_144701.2:c.1873T>C	NP_653302.2:p.Ser625Pro
XM_005270516.2:c.1111T>C	XP_005270573.1:p.Ser371Pro
XM_011540789.1:c.1963T>C	XP_011539091.1:p.Ser655Pro
XM_011540790.1:c.1873T>C	XP_011539092.1:p.Ser625Pro
XM_011540791.1:c.1873T>C	XP_011539093.1:p.Ser625Pro
XM_011540790.3:c.1873T>C	XP_011539092.1:p.Ser625Pro
XM_011540791.3:c.1873T>C	XP_011539093.1:p.Ser625Pro
XR_001736993.1:n.1953T>C
NM_144701.3:c.1873T>C MANE Select	NP_653302.2:p.Ser625Pro