Canonical Allele Identifier: CA6947677
Community Standard Title: NM_001385012.1(NBEA):c.7039A>G (p.Ile2347Val)
Gene: NBEA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35583901A>G , CM000675.2:g.35583901A>G GRCh38
NC_000013.10:g.36158038A>G , CM000675.1:g.36158038A>G GRCh37
NC_000013.9:g.35056038A>G NCBI36
NG_028156.1:g.646615A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001385012.1:c.7039A>G MANE Select NP_001371941.1:p.Ile2347Val
ENST00000379939.7:c.7039A>G MANE Select ENSP00000369271.2:p.Ile2347Val
NM_001204197.1:c.418A>G NP_001191126.1:p.Ile140Val
NM_001204197.2:c.418A>G NP_001191126.1:p.Ile140Val
NM_001204197.3:c.418A>G NP_001191126.1:p.Ile140Val
NM_001379245.1:c.7030A>G NP_001366174.1:p.Ile2344Val
NM_015678.4:c.7039A>G NP_056493.3:p.Ile2347Val
NM_015678.5:c.7039A>G NP_056493.3:p.Ile2347Val
ENST00000310336.8:c.7042A>G ENSP00000308534.5:p.Ile2348Val
ENST00000379939.6:c.7030A>G ENSP00000369271.1:p.Ile2344Val
ENST00000400445.7:c.7039A>G ENSP00000383295.3:p.Ile2347Val
ENST00000400445.8:c.7039A>G ENSP00000383295.3:p.Ile2347Val
ENST00000537702.5:c.418A>G ENSP00000440233.1:p.Ile140Val
ENST00000537702.6:c.418A>G ENSP00000440233.1:p.Ile140Val
ENST00000629018.2:c.7039A>G ENSP00000486239.1:p.Ile2347Val
ENST00000629018.3:c.2903A>G
ENST00000629018.4:c.2683A>G ENSP00000486239.3:p.Ile895Val
ENST00000685163.1:n.862A>G
ENST00000685329.1:c.418A>G ENSP00000509799.1:p.Ile140Val
ENST00000685686.1:c.418A>G ENSP00000509879.1:p.Ile140Val
ENST00000685987.1:c.556A>G ENSP00000508957.1:p.Ile186Val
ENST00000685991.1:c.556A>G ENSP00000510804.1:p.Ile186Val
ENST00000686320.1:c.1261A>G ENSP00000508724.1:p.Ile421Val
ENST00000686386.1:n.2957A>G
ENST00000686741.1:c.418A>G ENSP00000510596.1:p.Ile140Val
ENST00000686952.1:c.418A>G ENSP00000509331.1:p.Ile140Val
ENST00000687287.1:c.466A>G ENSP00000510538.1:p.Ile156Val
ENST00000687587.1:n.494A>G
ENST00000688312.1:n.1311A>G
ENST00000688335.1:c.418A>G ENSP00000509646.1:p.Ile140Val
ENST00000688363.1:c.4789A>G ENSP00000510178.1:p.Ile1597Val
ENST00000688422.1:c.418A>G ENSP00000509488.1:p.Ile140Val
ENST00000688626.1:c.4885A>G ENSP00000509239.1:p.Ile1629Val
ENST00000689207.1:n.3329A>G
ENST00000689454.1:c.418A>G ENSP00000509389.1:p.Ile140Val
ENST00000690976.1:c.556A>G ENSP00000510740.1:p.Ile186Val
ENST00000691097.1:n.1749A>G
ENST00000691561.1:c.418A>G ENSP00000510517.1:p.Ile140Val
ENST00000692737.1:n.1985A>G
ENST00000693262.1:c.418A>G ENSP00000509811.1:p.Ile140Val
ENST00000693547.1:c.454A>G ENSP00000508942.1:p.Ile152Val
ENST00000693735.1:c.106A>G ENSP00000508505.1:p.Ile36Val
XM_005266346.3:c.7039A>G XP_005266403.1:p.Ile2347Val
XM_005266346.4:c.7039A>G XP_005266403.1:p.Ile2347Val
XM_005266347.3:c.7039A>G XP_005266404.2:p.Ile2347Val
XM_005266347.4:c.7039A>G XP_005266404.2:p.Ile2347Val
XM_005266348.3:c.7030A>G XP_005266405.2:p.Ile2344Val
XM_005266348.4:c.7030A>G XP_005266405.2:p.Ile2344Val
XM_005266350.2:c.6061A>G XP_005266407.1:p.Ile2021Val
XM_006719803.2:c.7039A>G XP_006719866.1:p.Ile2347Val
XM_006719803.3:c.7039A>G XP_006719866.1:p.Ile2347Val
XM_006719805.2:c.7030A>G XP_006719868.1:p.Ile2344Val
XM_006719805.3:c.7030A>G XP_006719868.1:p.Ile2344Val
XM_006719806.2:c.7030A>G XP_006719869.1:p.Ile2344Val
XM_006719806.3:c.7030A>G XP_006719869.1:p.Ile2344Val
XM_011535045.1:c.7039A>G XP_011533347.1:p.Ile2347Val
XM_011535046.1:c.5602A>G XP_011533348.1:p.Ile1868Val
XM_011535046.2:c.5602A>G XP_011533348.1:p.Ile1868Val
XM_011535047.1:c.7039A>G XP_011533349.1:p.Ile2347Val
XM_011535047.2:c.7039A>G XP_011533349.1:p.Ile2347Val
XM_017020544.1:c.7021A>G XP_016876033.1:p.Ile2341Val
XM_017020545.1:c.7021A>G XP_016876034.1:p.Ile2341Val
XM_017020546.1:c.6718A>G XP_016876035.1:p.Ile2240Val
XM_024449338.1:c.5653A>G XP_024305106.1:p.Ile1885Val