Canonical Allele Identifier: CA10331680

Gene: IL3RA

Linked Data

• dbSNP Id: rs369112714
• ExAC: X:1471089 C / T
• gnomAD v2: X-1471089-C-T
• gnomAD v3: X-1352196-C-T
• gnomAD v4: X-1352196-C-T
• MyVariant Identifiers: chrX:g.1471089C>T (hg19) ; chrX:g.1352196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352196C>T , CM000685.2:g.1352196C>T	GRCh38
NC_000023.10:g.1471089C>T , CM000685.1:g.1471089C>T	GRCh37
NC_000023.9:g.1431089C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.395C>T MANE Select	ENSP00000327890.4:p.Ala132Val
ENST00000331035.9:c.395C>T	ENSP00000327890.4:p.Ala132Val
ENST00000381469.7:c.161C>T	ENSP00000370878.2:p.Ala54Val
ENST00000432757.6:c.161C>T	ENSP00000414867.1:p.Ala54Val
XM_005274431.3:c.395C>T	XP_005274488.1:p.Ala132Val
XM_005274432.1:c.395C>T	XP_005274489.1:p.Ala132Val
XR_247285.3:n.870+114G>A
XR_430488.2:n.1194+114G>A
XR_430490.2:n.869+114G>A
XR_951269.1:n.1398+114G>A
XR_951270.1:n.1415+114G>A
XR_951271.1:n.1466+114G>A
XR_951272.1:n.1402+114G>A
XR_951273.1:n.1329+114G>A
XR_951274.1:n.1333+114G>A
XR_951276.1:n.1346+114G>A
XR_951277.1:n.1398+114G>A
XR_951278.1:n.1398+114G>A
XR_951279.1:n.1398+114G>A
XR_951280.1:n.1398+114G>A
XR_951281.1:n.1398+114G>A
XR_951282.1:n.1243+114G>A
XR_951283.1:n.872+114G>A
XM_005274431.5:c.395C>T	XP_005274488.1:p.Ala132Val
XM_017029491.2:c.395C>T	XP_016884980.1:p.Ala132Val
XR_001755748.1:n.1189+114G>A
XR_001755751.1:n.1189+114G>A
XR_001755752.1:n.1189+114G>A
XR_001755754.1:n.1189+114G>A