Canonical Allele Identifier: CA340729049

Gene: IL23R

Linked Data

• dbSNP Id: rs1248727454
• gnomAD v3: 1-67258887-G-A
• gnomAD v4: 1-67258887-G-A
• MyVariant Identifiers: chr1:g.67724570G>A (hg19) ; chr1:g.67258887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258887G>A , CM000663.2:g.67258887G>A	GRCh38
NC_000001.10:g.67724570G>A , CM000663.1:g.67724570G>A	GRCh37
NC_000001.9:g.67497158G>A	NCBI36
NG_011498.1:g.97402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1488G>A	ENSP00000513138.1:n.1488G>A
ENST00000697150.1:c.1546G>A	ENSP00000513139.1:n.1546G>A
ENST00000697151.1:c.1479G>A	ENSP00000513140.1:n.1479G>A
ENST00000697164.1:c.1559G>A	ENSP00000513153.1:p.Ser520Asn
ENST00000697165.1:c.1346G>A	ENSP00000513154.1:p.Ser449Asn
ENST00000347310.10:c.1649G>A MANE Select	ENSP00000321345.5:p.Ser550Asn
ENST00000637002.1:c.1040G>A	ENSP00000490340.1:p.Ser347Asn
ENST00000347310.9:c.1649G>A	ENSP00000321345.5:p.Ser550Asn
ENST00000395227.2:c.443G>A	ENSP00000378652.2:p.Ser148Asn
ENST00000425614.3:c.884G>A	ENSP00000387640.2:p.Ser295Asn
ENST00000473881.2:c.*475G>A	ENSP00000486667.1:n.*475G>A
NM_144701.2:c.1649G>A	NP_653302.2:p.Ser550Asn
XM_005270516.2:c.887G>A	XP_005270573.1:p.Ser296Asn
XM_011540789.1:c.1739G>A	XP_011539091.1:p.Ser580Asn
XM_011540790.1:c.1649G>A	XP_011539092.1:p.Ser550Asn
XM_011540791.1:c.1649G>A	XP_011539093.1:p.Ser550Asn
XM_011540790.3:c.1649G>A	XP_011539092.1:p.Ser550Asn
XM_011540791.3:c.1649G>A	XP_011539093.1:p.Ser550Asn
XR_001736993.1:n.1729G>A
NM_144701.3:c.1649G>A MANE Select	NP_653302.2:p.Ser550Asn