Canonical Allele Identifier: CA412245738

Gene: IL3RA

Linked Data

• dbSNP Id: rs2086123335
• gnomAD v4: X-1352228-G-A
• MyVariant Identifiers: chrX:g.1471121G>A (hg19) ; chrX:g.1352228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352228G>A , CM000685.2:g.1352228G>A	GRCh38
NC_000023.10:g.1471121G>A , CM000685.1:g.1471121G>A	GRCh37
NC_000023.9:g.1431121G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.427G>A MANE Select	ENSP00000327890.4:p.Ala143Thr
ENST00000331035.9:c.427G>A	ENSP00000327890.4:p.Ala143Thr
ENST00000381469.7:c.193G>A	ENSP00000370878.2:p.Ala65Thr
ENST00000432757.6:c.193G>A	ENSP00000414867.1:p.Ala65Thr
XM_005274431.3:c.427G>A	XP_005274488.1:p.Ala143Thr
XM_005274432.1:c.427G>A	XP_005274489.1:p.Ala143Thr
XR_247285.3:n.870+82C>T
XR_430488.2:n.1194+82C>T
XR_430490.2:n.869+82C>T
XR_951269.1:n.1398+82C>T
XR_951270.1:n.1415+82C>T
XR_951271.1:n.1466+82C>T
XR_951272.1:n.1402+82C>T
XR_951273.1:n.1329+82C>T
XR_951274.1:n.1333+82C>T
XR_951276.1:n.1346+82C>T
XR_951277.1:n.1398+82C>T
XR_951278.1:n.1398+82C>T
XR_951279.1:n.1398+82C>T
XR_951280.1:n.1398+82C>T
XR_951281.1:n.1398+82C>T
XR_951282.1:n.1243+82C>T
XR_951283.1:n.872+82C>T
XM_005274431.5:c.427G>A	XP_005274488.1:p.Ala143Thr
XM_017029491.2:c.427G>A	XP_016884980.1:p.Ala143Thr
XR_001755748.1:n.1189+82C>T
XR_001755751.1:n.1189+82C>T
XR_001755752.1:n.1189+82C>T
XR_001755754.1:n.1189+82C>T