Canonical Allele Identifier: CA10331692
Gene: IL3RA HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.1352245G>T
GRCh37 chrX:g.1471138G>T
gnomAD v2:
X:1471138 G / T
gnomAD v3:
X:1352245 G / T
gnomAD v4:
chrX-1352245-G-T
Joint Max Group AF 0.88308838 (AFR)
Genomes Max Group AF 0.87667812 (AFR)
Exomes Max Group AF 0.88583092 (AFR)
dbSNP:
6603272
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.1352245G>T , CM000685.2:g.1352245G>T GRCh38
NC_000023.10:g.1471138G>T , CM000685.1:g.1471138G>T GRCh37
NC_000023.9:g.1431138G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000331035.10:c.431+13G>T MANE Select ENSP00000327890.4:n.431+13G>T
ENST00000331035.9:c.431+13G>T ENSP00000327890.4:n.431+13G>T
ENST00000381469.7:c.197+13G>T ENSP00000370878.2:n.197+13G>T
ENST00000432757.6:c.197+13G>T ENSP00000414867.1:n.197+13G>T
XM_005274431.3:c.431+13G>T XP_005274488.1:n.431+13G>T
XM_005274432.1:c.431+13G>T XP_005274489.1:n.431+13G>T
XR_247285.3:n.870+65C>A
XR_430488.2:n.1194+65C>A
XR_430490.2:n.869+65C>A
XR_951269.1:n.1398+65C>A
XR_951270.1:n.1415+65C>A
XR_951271.1:n.1466+65C>A
XR_951272.1:n.1402+65C>A
XR_951273.1:n.1329+65C>A
XR_951274.1:n.1333+65C>A
XR_951276.1:n.1346+65C>A
XR_951277.1:n.1398+65C>A
XR_951278.1:n.1398+65C>A
XR_951279.1:n.1398+65C>A
XR_951280.1:n.1398+65C>A
XR_951281.1:n.1398+65C>A
XR_951282.1:n.1243+65C>A
XR_951283.1:n.872+65C>A
XM_005274431.5:c.431+13G>T XP_005274488.1:n.431+13G>T
XM_017029491.2:c.431+13G>T XP_016884980.1:n.431+13G>T
XR_001755748.1:n.1189+65C>A
XR_001755751.1:n.1189+65C>A
XR_001755752.1:n.1189+65C>A
XR_001755754.1:n.1189+65C>A
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