Canonical Allele Identifier: CA13829150
Gene: NBEA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.35657351T>G , CM000675.2:g.35657351T>G GRCh38
NC_000013.10:g.36231488T>G , CM000675.1:g.36231488T>G GRCh37
NC_000013.9:g.35129488T>G NCBI36
NG_028156.1:g.720065T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379922.4:n.1508+1602T>G
ENST00000400445.8:c.8299+1602T>G ENSP00000383295.3:n.8299+1602T>G
ENST00000537702.6:c.1678+1602T>G ENSP00000440233.1:n.1678+1602T>G
ENST00000629018.4:c.3943+1602T>G ENSP00000486239.3:n.3943+1602T>G
ENST00000685329.1:c.1678+1602T>G ENSP00000509799.1:n.1678+1602T>G
ENST00000685686.1:c.1678+1602T>G ENSP00000509879.1:n.1678+1602T>G
ENST00000685987.1:c.1816+1602T>G ENSP00000508957.1:n.1816+1602T>G
ENST00000686320.1:c.2521+1602T>G ENSP00000508724.1:n.2521+1602T>G
ENST00000686386.1:n.4217+1602T>G
ENST00000686741.1:c.1678+1602T>G ENSP00000510596.1:n.1678+1602T>G
ENST00000686952.1:c.1678+1602T>G ENSP00000509331.1:n.1678+1602T>G
ENST00000687287.1:c.1726+1602T>G ENSP00000510538.1:n.1726+1602T>G
ENST00000687952.1:n.1483+1602T>G
ENST00000688312.1:n.2571+1602T>G
ENST00000688335.1:c.1663+1602T>G ENSP00000509646.1:n.1663+1602T>G
ENST00000688363.1:c.6055+1596T>G ENSP00000510178.1:n.6055+1596T>G
ENST00000688626.1:c.6145+1602T>G ENSP00000509239.1:n.6145+1602T>G
ENST00000689454.1:c.1678+1602T>G ENSP00000509389.1:n.1678+1602T>G
ENST00000690972.1:n.1316+1602T>G
ENST00000690976.1:c.1648+1602T>G ENSP00000510740.1:n.1648+1602T>G
ENST00000691561.1:c.1663+1602T>G ENSP00000510517.1:n.1663+1602T>G
ENST00000692578.1:c.682+1602T>G ENSP00000509667.1:n.682+1602T>G
ENST00000693205.1:n.5112+1602T>G
ENST00000693262.1:c.1678+1602T>G ENSP00000509811.1:n.1678+1602T>G
ENST00000693547.1:c.2044+1602T>G ENSP00000508942.1:n.2044+1602T>G
ENST00000693735.1:c.1366+1602T>G ENSP00000508505.1:n.1366+1602T>G
ENST00000379939.7:c.8362+1602T>G MANE Select ENSP00000369271.2:n.8362+1602T>G
ENST00000629018.3:c.4169+1596T>G
ENST00000310336.8:c.8302+1602T>G ENSP00000308534.5:n.8302+1602T>G
ENST00000379922.3:c.1033+1602T>G ENSP00000369254.3:n.1033+1602T>G
ENST00000379939.6:c.8290+1602T>G ENSP00000369271.1:n.8290+1602T>G
ENST00000400445.7:c.8299+1602T>G ENSP00000383295.3:n.8299+1602T>G
ENST00000537702.5:c.1678+1602T>G ENSP00000440233.1:n.1678+1602T>G
ENST00000629018.2:c.8299+1602T>G ENSP00000486239.1:n.8299+1602T>G
NM_001204197.1:c.1678+1602T>G NP_001191126.1:n.1678+1602T>G
NM_015678.4:c.8299+1602T>G NP_056493.3:n.8299+1602T>G
XM_005266346.3:c.8284+1602T>G XP_005266403.1:n.8284+1602T>G
XM_005266347.3:c.8362+1602T>G XP_005266404.2:n.8362+1602T>G
XM_005266348.3:c.8353+1602T>G XP_005266405.2:n.8353+1602T>G
XM_005266350.2:c.7384+1602T>G XP_005266407.1:n.7384+1602T>G
XM_006719803.2:c.8347+1602T>G XP_006719866.1:n.8347+1602T>G
XM_006719805.2:c.8275+1602T>G XP_006719868.1:n.8275+1602T>G
XM_006719806.2:c.8290+1602T>G XP_006719869.1:n.8290+1602T>G
XM_011535046.1:c.6925+1602T>G XP_011533348.1:n.6925+1602T>G
XM_005266346.4:c.8284+1602T>G XP_005266403.1:n.8284+1602T>G
XM_005266347.4:c.8362+1602T>G XP_005266404.2:n.8362+1602T>G
XM_005266348.4:c.8353+1602T>G XP_005266405.2:n.8353+1602T>G
XM_006719803.3:c.8347+1602T>G XP_006719866.1:n.8347+1602T>G
XM_006719805.3:c.8275+1602T>G XP_006719868.1:n.8275+1602T>G
XM_006719806.3:c.8290+1602T>G XP_006719869.1:n.8290+1602T>G
XM_011535046.2:c.6925+1602T>G XP_011533348.1:n.6925+1602T>G
XM_017020544.1:c.8344+1602T>G XP_016876033.1:n.8344+1602T>G
XM_017020545.1:c.8281+1602T>G XP_016876034.1:n.8281+1602T>G
XM_017020546.1:c.8041+1602T>G XP_016876035.1:n.8041+1602T>G
XM_024449338.1:c.6976+1602T>G XP_024305106.1:n.6976+1602T>G
NM_001204197.2:c.1678+1602T>G NP_001191126.1:n.1678+1602T>G
NM_015678.5:c.8299+1602T>G NP_056493.3:n.8299+1602T>G
NM_001204197.3:c.1678+1602T>G NP_001191126.1:n.1678+1602T>G
NM_001379245.1:c.8353+1602T>G NP_001366174.1:n.8353+1602T>G
NM_001385012.1:c.8362+1602T>G MANE Select NP_001371941.1:n.8362+1602T>G
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