Canonical Allele Identifier: CA515392917

Gene: IL3RA

Linked Data

• dbSNP Id: rs1242816932
• gnomAD v2: X-1471060-C-T
• gnomAD v3: X-1352167-C-T
• gnomAD v4: X-1352167-C-T
• MyVariant Identifiers: chrX:g.1471060C>T (hg19) ; chrX:g.1352167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352167C>T , CM000685.2:g.1352167C>T	GRCh38
NC_000023.10:g.1471060C>T , CM000685.1:g.1471060C>T	GRCh37
NC_000023.9:g.1431060C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.366C>T MANE Select	ENSP00000327890.4:p.Cys122=
ENST00000331035.9:c.366C>T	ENSP00000327890.4:p.Cys122=
ENST00000381469.7:c.132C>T	ENSP00000370878.2:p.Cys44=
ENST00000432757.6:c.132C>T	ENSP00000414867.1:p.Cys44=
XM_005274431.3:c.366C>T	XP_005274488.1:p.Cys122=
XM_005274432.1:c.366C>T	XP_005274489.1:p.Cys122=
XR_247285.3:n.870+143G>A
XR_430488.2:n.1194+143G>A
XR_430490.2:n.869+143G>A
XR_951269.1:n.1398+143G>A
XR_951270.1:n.1415+143G>A
XR_951271.1:n.1466+143G>A
XR_951272.1:n.1402+143G>A
XR_951273.1:n.1329+143G>A
XR_951274.1:n.1333+143G>A
XR_951276.1:n.1346+143G>A
XR_951277.1:n.1398+143G>A
XR_951278.1:n.1398+143G>A
XR_951279.1:n.1398+143G>A
XR_951280.1:n.1398+143G>A
XR_951281.1:n.1398+143G>A
XR_951282.1:n.1243+143G>A
XR_951283.1:n.872+143G>A
XM_005274431.5:c.366C>T	XP_005274488.1:p.Cys122=
XM_017029491.2:c.366C>T	XP_016884980.1:p.Cys122=
XR_001755748.1:n.1189+143G>A
XR_001755751.1:n.1189+143G>A
XR_001755752.1:n.1189+143G>A
XR_001755754.1:n.1189+143G>A