Canonical Allele Identifier: CA412245862

Gene: IL3RA

Linked Data

• gnomAD v4: X-1352337-C-G
• COSMIC: COSM1315265
• MyVariant Identifiers: chrX:g.1471230C>G (hg19) ; chrX:g.1352337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1352337C>G , CM000685.2:g.1352337C>G	GRCh38
NC_000023.10:g.1471230C>G , CM000685.1:g.1471230C>G	GRCh37
NC_000023.9:g.1431230C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331035.10:c.447C>G MANE Select	ENSP00000327890.4:p.Tyr149Ter
ENST00000331035.9:c.447C>G	ENSP00000327890.4:p.Tyr149Ter
ENST00000381469.7:c.213C>G	ENSP00000370878.2:p.Tyr71Ter
ENST00000432757.6:c.213C>G	ENSP00000414867.1:p.Tyr71Ter
XM_005274431.3:c.447C>G	XP_005274488.1:p.Tyr149Ter
XM_005274432.1:c.444C>G	XP_005274489.1:p.Tyr148Ter
XR_247285.3:n.843G>C
XR_430488.2:n.1167G>C
XR_430490.2:n.842G>C
XR_951269.1:n.1371G>C
XR_951270.1:n.1388G>C
XR_951271.1:n.1439G>C
XR_951272.1:n.1375G>C
XR_951273.1:n.1302G>C
XR_951274.1:n.1306G>C
XR_951276.1:n.1319G>C
XR_951277.1:n.1371G>C
XR_951278.1:n.1371G>C
XR_951279.1:n.1371G>C
XR_951280.1:n.1371G>C
XR_951281.1:n.1371G>C
XR_951282.1:n.1216G>C
XR_951283.1:n.845G>C
XM_005274431.5:c.447C>G	XP_005274488.1:p.Tyr149Ter
XM_017029491.2:c.444C>G	XP_016884980.1:p.Tyr148Ter
XR_001755748.1:n.1162G>C
XR_001755751.1:n.1162G>C
XR_001755752.1:n.1162G>C
XR_001755754.1:n.1162G>C