Canonical Allele Identifier: CA10331684

Gene: IL3RA

Linked Data

• ClinVar Variation Id: 734034
• ClinVar RCV Id: RCV000909406
• dbSNP Id: rs148752792
• ExAC: X:1471102 C / T
• gnomAD v2: X-1471102-C-T
• gnomAD v3: X-1352209-C-T
• gnomAD v4: X-1352209-C-T
• MyVariant Identifiers: chrX:g.1471102C>T (hg19) ; chrX:g.1352209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352209C>T , CM000685.2:g.1352209C>T	GRCh38
NC_000023.10:g.1471102C>T , CM000685.1:g.1471102C>T	GRCh37
NC_000023.9:g.1431102C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.408C>T MANE Select	ENSP00000327890.4:p.Tyr136=
ENST00000331035.9:c.408C>T	ENSP00000327890.4:p.Tyr136=
ENST00000381469.7:c.174C>T	ENSP00000370878.2:p.Tyr58=
ENST00000432757.6:c.174C>T	ENSP00000414867.1:p.Tyr58=
XM_005274431.3:c.408C>T	XP_005274488.1:p.Tyr136=
XM_005274432.1:c.408C>T	XP_005274489.1:p.Tyr136=
XR_247285.3:n.870+101G>A
XR_430488.2:n.1194+101G>A
XR_430490.2:n.869+101G>A
XR_951269.1:n.1398+101G>A
XR_951270.1:n.1415+101G>A
XR_951271.1:n.1466+101G>A
XR_951272.1:n.1402+101G>A
XR_951273.1:n.1329+101G>A
XR_951274.1:n.1333+101G>A
XR_951276.1:n.1346+101G>A
XR_951277.1:n.1398+101G>A
XR_951278.1:n.1398+101G>A
XR_951279.1:n.1398+101G>A
XR_951280.1:n.1398+101G>A
XR_951281.1:n.1398+101G>A
XR_951282.1:n.1243+101G>A
XR_951283.1:n.872+101G>A
XM_005274431.5:c.408C>T	XP_005274488.1:p.Tyr136=
XM_017029491.2:c.408C>T	XP_016884980.1:p.Tyr136=
XR_001755748.1:n.1189+101G>A
XR_001755751.1:n.1189+101G>A
XR_001755752.1:n.1189+101G>A
XR_001755754.1:n.1189+101G>A