Canonical Allele Identifier: CA412245721
Gene: IL3RA HGNC NCBI

Linked Data

gnomAD v4: X-1352220-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.1352220T>C , CM000685.2:g.1352220T>C GRCh38
NC_000023.10:g.1471113T>C , CM000685.1:g.1471113T>C GRCh37
NC_000023.9:g.1431113T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331035.10:c.419T>C MANE Select ENSP00000327890.4:p.Leu140Ser
ENST00000331035.9:c.419T>C ENSP00000327890.4:p.Leu140Ser
ENST00000381469.7:c.185T>C ENSP00000370878.2:p.Leu62Ser
ENST00000432757.6:c.185T>C ENSP00000414867.1:p.Leu62Ser
XM_005274431.3:c.419T>C XP_005274488.1:p.Leu140Ser
XM_005274432.1:c.419T>C XP_005274489.1:p.Leu140Ser
XR_247285.3:n.870+90A>G
XR_430488.2:n.1194+90A>G
XR_430490.2:n.869+90A>G
XR_951269.1:n.1398+90A>G
XR_951270.1:n.1415+90A>G
XR_951271.1:n.1466+90A>G
XR_951272.1:n.1402+90A>G
XR_951273.1:n.1329+90A>G
XR_951274.1:n.1333+90A>G
XR_951276.1:n.1346+90A>G
XR_951277.1:n.1398+90A>G
XR_951278.1:n.1398+90A>G
XR_951279.1:n.1398+90A>G
XR_951280.1:n.1398+90A>G
XR_951281.1:n.1398+90A>G
XR_951282.1:n.1243+90A>G
XR_951283.1:n.872+90A>G
XM_005274431.5:c.419T>C XP_005274488.1:p.Leu140Ser
XM_017029491.2:c.419T>C XP_016884980.1:p.Leu140Ser
XR_001755748.1:n.1189+90A>G
XR_001755751.1:n.1189+90A>G
XR_001755752.1:n.1189+90A>G
XR_001755754.1:n.1189+90A>G