Canonical Allele Identifier: CA6166430
Community Standard Title: NM_006185.4(NUMA1):c.6242G>A (p.Arg2081His)
Gene: IL18BP HGNC NCBI
NUMA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72003981C>T , CM000673.2:g.72003981C>T GRCh38
NC_000011.9:g.71715027C>T , CM000673.1:g.71715027C>T GRCh37
NC_000011.8:g.71392675C>T NCBI36
NG_029021.1:g.10070C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006185.4:c.6242G>A (NUMA1) MANE Select NP_006176.2:p.Arg2081His
ENST00000393695.8:c.6242G>A (NUMA1) MANE Select ENSP00000377298.4:p.Arg2081His
NM_001286561.1:c.6200G>A (NUMA1) NP_001273490.1:p.Arg2067His
NM_001286561.2:c.6200G>A (NUMA1) NP_001273490.1:p.Arg2067His
NM_006185.3:c.6242G>A (NUMA1) NP_006176.2:p.Arg2081His
NR_104476.1:n.3091G>A (NUMA1)
NR_104476.2:n.3159G>A (NUMA1)
ENST00000343898.9:c.*908+1177C>T (IL18BP) ENSP00000343309.5:n.*908+1177C>T
ENST00000351960.10:c.2834G>A (NUMA1) ENSP00000260051.8:p.Arg945His
ENST00000358965.10:c.6200G>A (NUMA1) ENSP00000351851.6:p.Arg2067His
ENST00000393695.7:c.6242G>A (NUMA1) ENSP00000377298.3:p.Arg2081His
ENST00000540626.5:n.1507G>A (NUMA1)
ENST00000541584.5:c.2788G>A (NUMA1)
ENST00000613205.4:c.2834G>A (NUMA1) ENSP00000480172.1:p.Arg945His
ENST00000616538.4:c.6194G>A (NUMA1) ENSP00000481541.1:p.Arg2065His
ENST00000620566.4:c.6200G>A (NUMA1) ENSP00000478624.1:p.Arg2067His
ENST00000698837.1:c.*943+1177C>T (IL18BP) ENSP00000513973.1:n.*943+1177C>T
ENST00000698838.1:c.*943+1177C>T (IL18BP) ENSP00000513974.1:n.*943+1177C>T
ENST00000698839.1:c.*943+1177C>T (IL18BP) ENSP00000513975.1:n.*943+1177C>T
ENST00000698840.1:c.*943+1177C>T (IL18BP) ENSP00000513976.1:n.*943+1177C>T
XM_006718564.1:c.6242G>A (NUMA1) XP_006718627.1:p.Arg2081His
XM_006718564.2:c.6242G>A (NUMA1) XP_006718627.1:p.Arg2081His
XM_011545054.1:c.6296G>A (NUMA1) XP_011543356.1:p.Arg2099His
XM_011545054.2:c.6296G>A (NUMA1) XP_011543356.1:p.Arg2099His
XM_011545055.1:c.6296G>A (NUMA1) XP_011543357.1:p.Arg2099His
XM_011545056.1:c.6296G>A (NUMA1) XP_011543358.1:p.Arg2099His
XM_011545056.2:c.6296G>A (NUMA1) XP_011543358.1:p.Arg2099His
XM_011545057.1:c.6296G>A (NUMA1) XP_011543359.1:p.Arg2099His
XM_011545057.2:c.6296G>A (NUMA1) XP_011543359.1:p.Arg2099His
XM_011545058.1:c.6296G>A (NUMA1) XP_011543360.1:p.Arg2099His
XM_011545059.1:c.6296G>A (NUMA1) XP_011543361.1:p.Arg2099His
XM_011545059.2:c.6296G>A (NUMA1) XP_011543361.1:p.Arg2099His
XM_011545060.1:c.6296G>A (NUMA1) XP_011543362.1:p.Arg2099His
XM_011545060.2:c.6296G>A (NUMA1) XP_011543362.1:p.Arg2099His
XM_011545061.1:c.6296G>A (NUMA1) XP_011543363.1:p.Arg2099His
XM_011545061.2:c.6296G>A (NUMA1) XP_011543363.1:p.Arg2099His
XM_011545062.1:c.6296G>A (NUMA1) XP_011543364.1:p.Arg2099His
XM_011545062.2:c.6296G>A (NUMA1) XP_011543364.1:p.Arg2099His
XM_011545063.1:c.6296G>A (NUMA1) XP_011543365.1:p.Arg2099His
XM_011545063.3:c.6296G>A (NUMA1) XP_011543365.1:p.Arg2099His
XM_011545064.1:c.6296G>A (NUMA1) XP_011543366.1:p.Arg2099His
XM_011545065.1:c.6254G>A (NUMA1) XP_011543367.1:p.Arg2085His
XM_011545065.2:c.6254G>A (NUMA1) XP_011543367.1:p.Arg2085His
XM_011545066.1:c.6200G>A (NUMA1) XP_011543368.1:p.Arg2067His
XM_011545066.2:c.6200G>A (NUMA1) XP_011543368.1:p.Arg2067His
XM_017017830.1:c.6200G>A (NUMA1) XP_016873319.1:p.Arg2067His
XM_017017831.1:c.6200G>A (NUMA1) XP_016873320.1:p.Arg2067His
XM_024448555.1:c.6296G>A (NUMA1) XP_024304323.1:p.Arg2099His
XM_024448556.1:c.6242G>A (NUMA1) XP_024304324.1:p.Arg2081His