Canonical Allele Identifier: CA515392956
Gene: IL3RA HGNC NCBI

Linked Data

dbSNP Id: rs2086120738
gnomAD v3: X-1352191-C-A
gnomAD v4: X-1352191-C-A
MyVariant Identifiers: chrX:g.1471084C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.1352191C>A , CM000685.2:g.1352191C>A GRCh38
NC_000023.10:g.1471084C>A , CM000685.1:g.1471084C>A GRCh37
NC_000023.9:g.1431084C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331035.10:c.390C>A MANE Select ENSP00000327890.4:p.Ala130=
ENST00000331035.9:c.390C>A ENSP00000327890.4:p.Ala130=
ENST00000381469.7:c.156C>A ENSP00000370878.2:p.Ala52=
ENST00000432757.6:c.156C>A ENSP00000414867.1:p.Ala52=
XM_005274431.3:c.390C>A XP_005274488.1:p.Ala130=
XM_005274432.1:c.390C>A XP_005274489.1:p.Ala130=
XR_247285.3:n.870+119G>T
XR_430488.2:n.1194+119G>T
XR_430490.2:n.869+119G>T
XR_951269.1:n.1398+119G>T
XR_951270.1:n.1415+119G>T
XR_951271.1:n.1466+119G>T
XR_951272.1:n.1402+119G>T
XR_951273.1:n.1329+119G>T
XR_951274.1:n.1333+119G>T
XR_951276.1:n.1346+119G>T
XR_951277.1:n.1398+119G>T
XR_951278.1:n.1398+119G>T
XR_951279.1:n.1398+119G>T
XR_951280.1:n.1398+119G>T
XR_951281.1:n.1398+119G>T
XR_951282.1:n.1243+119G>T
XR_951283.1:n.872+119G>T
XM_005274431.5:c.390C>A XP_005274488.1:p.Ala130=
XM_017029491.2:c.390C>A XP_016884980.1:p.Ala130=
XR_001755748.1:n.1189+119G>T
XR_001755751.1:n.1189+119G>T
XR_001755752.1:n.1189+119G>T
XR_001755754.1:n.1189+119G>T