Canonical Allele Identifier: CA412245572
Gene: IL3RA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.1352151T>C , CM000685.2:g.1352151T>C GRCh38
NC_000023.10:g.1471044T>C , CM000685.1:g.1471044T>C GRCh37
NC_000023.9:g.1431044T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331035.10:c.350T>C MANE Select ENSP00000327890.4:p.Val117Ala
ENST00000331035.9:c.350T>C ENSP00000327890.4:p.Val117Ala
ENST00000381469.7:c.116T>C ENSP00000370878.2:p.Val39Ala
ENST00000432757.6:c.116T>C ENSP00000414867.1:p.Val39Ala
XM_005274431.3:c.350T>C XP_005274488.1:p.Val117Ala
XM_005274432.1:c.350T>C XP_005274489.1:p.Val117Ala
XR_247285.3:n.870+159A>G
XR_430488.2:n.1194+159A>G
XR_430490.2:n.869+159A>G
XR_951269.1:n.1398+159A>G
XR_951270.1:n.1415+159A>G
XR_951271.1:n.1466+159A>G
XR_951272.1:n.1402+159A>G
XR_951273.1:n.1329+159A>G
XR_951274.1:n.1333+159A>G
XR_951276.1:n.1346+159A>G
XR_951277.1:n.1398+159A>G
XR_951278.1:n.1398+159A>G
XR_951279.1:n.1398+159A>G
XR_951280.1:n.1398+159A>G
XR_951281.1:n.1398+159A>G
XR_951282.1:n.1243+159A>G
XR_951283.1:n.872+159A>G
XM_005274431.5:c.350T>C XP_005274488.1:p.Val117Ala
XM_017029491.2:c.350T>C XP_016884980.1:p.Val117Ala
XR_001755748.1:n.1189+159A>G
XR_001755751.1:n.1189+159A>G
XR_001755752.1:n.1189+159A>G
XR_001755754.1:n.1189+159A>G