Canonical Allele Identifier: CA10331713

Gene: IL3RA

Linked Data

• dbSNP Id: rs371601427
• ExAC: X:1471187 C / T
• gnomAD v2: X-1471187-C-T
• gnomAD v3: X-1352294-C-T
• gnomAD v4: X-1352294-C-T
• MyVariant Identifiers: chrX:g.1471187C>T (hg19) ; chrX:g.1352294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352294C>T , CM000685.2:g.1352294C>T	GRCh38
NC_000023.10:g.1471187C>T , CM000685.1:g.1471187C>T	GRCh37
NC_000023.9:g.1431187C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.432-28C>T MANE Select	ENSP00000327890.4:n.432-28C>T
ENST00000331035.9:c.432-28C>T	ENSP00000327890.4:n.432-28C>T
ENST00000381469.7:c.198-28C>T	ENSP00000370878.2:n.198-28C>T
ENST00000432757.6:c.198-28C>T	ENSP00000414867.1:n.198-28C>T
XM_005274431.3:c.432-28C>T	XP_005274488.1:n.432-28C>T
XM_005274432.1:c.432-31C>T	XP_005274489.1:n.432-31C>T
XR_247285.3:n.870+16G>A
XR_430488.2:n.1194+16G>A
XR_430490.2:n.869+16G>A
XR_951269.1:n.1398+16G>A
XR_951270.1:n.1415+16G>A
XR_951271.1:n.1466+16G>A
XR_951272.1:n.1402+16G>A
XR_951273.1:n.1329+16G>A
XR_951274.1:n.1333+16G>A
XR_951276.1:n.1346+16G>A
XR_951277.1:n.1398+16G>A
XR_951278.1:n.1398+16G>A
XR_951279.1:n.1398+16G>A
XR_951280.1:n.1398+16G>A
XR_951281.1:n.1398+16G>A
XR_951282.1:n.1243+16G>A
XR_951283.1:n.872+16G>A
XM_005274431.5:c.432-28C>T	XP_005274488.1:n.432-28C>T
XM_017029491.2:c.432-31C>T	XP_016884980.1:n.432-31C>T
XR_001755748.1:n.1189+16G>A
XR_001755751.1:n.1189+16G>A
XR_001755752.1:n.1189+16G>A
XR_001755754.1:n.1189+16G>A