Canonical Allele Identifier: CA387839470

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35649823G>T , CM000675.2:g.35649823G>T	GRCh38
NC_000013.10:g.36223960G>T , CM000675.1:g.36223960G>T	GRCh37
NC_000013.9:g.35121960G>T	NCBI36
NG_028156.1:g.712537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379922.4:n.1085G>T
ENST00000400445.8:c.7876G>T	ENSP00000383295.3:p.Val2626Leu
ENST00000537702.6:c.1255G>T	ENSP00000440233.1:p.Val419Leu
ENST00000629018.4:c.3520G>T	ENSP00000486239.3:p.Val1174Leu
ENST00000685329.1:c.1255G>T	ENSP00000509799.1:p.Val419Leu
ENST00000685686.1:c.1255G>T	ENSP00000509879.1:p.Val419Leu
ENST00000685987.1:c.1393G>T	ENSP00000508957.1:p.Val465Leu
ENST00000686320.1:c.2098G>T	ENSP00000508724.1:p.Val700Leu
ENST00000686386.1:n.3794G>T
ENST00000686741.1:c.1255G>T	ENSP00000510596.1:p.Val419Leu
ENST00000686952.1:c.1255G>T	ENSP00000509331.1:p.Val419Leu
ENST00000687287.1:c.1303G>T	ENSP00000510538.1:p.Val435Leu
ENST00000687952.1:n.1060G>T
ENST00000688312.1:n.2148G>T
ENST00000688335.1:c.1240G>T	ENSP00000509646.1:p.Val414Leu
ENST00000688363.1:c.5626G>T	ENSP00000510178.1:p.Val1876Leu
ENST00000688626.1:c.5722G>T	ENSP00000509239.1:p.Val1908Leu
ENST00000689079.1:n.515G>T
ENST00000689454.1:c.1255G>T	ENSP00000509389.1:p.Val419Leu
ENST00000690972.1:n.893G>T
ENST00000690976.1:c.1225G>T	ENSP00000510740.1:p.Val409Leu
ENST00000691561.1:c.1240G>T	ENSP00000510517.1:p.Val414Leu
ENST00000692578.1:c.259G>T	ENSP00000509667.1:p.Val87Leu
ENST00000693205.1:n.4689G>T
ENST00000693262.1:c.1255G>T	ENSP00000509811.1:p.Val419Leu
ENST00000693547.1:c.1621G>T	ENSP00000508942.1:n.1621G>T
ENST00000693712.1:n.294G>T
ENST00000693735.1:c.943G>T	ENSP00000508505.1:p.Val315Leu
ENST00000379939.7:c.7939G>T MANE Select	ENSP00000369271.2:p.Val2647Leu
ENST00000629018.3:c.3740G>T
ENST00000310336.8:c.7879G>T	ENSP00000308534.5:p.Val2627Leu
ENST00000379922.3:c.610G>T	ENSP00000369254.3:p.Val204Leu
ENST00000379939.6:c.7867G>T	ENSP00000369271.1:p.Val2623Leu
ENST00000400445.7:c.7876G>T	ENSP00000383295.3:p.Val2626Leu
ENST00000537702.5:c.1255G>T	ENSP00000440233.1:p.Val419Leu
ENST00000629018.2:c.7876G>T	ENSP00000486239.1:p.Val2626Leu
NM_001204197.1:c.1255G>T	NP_001191126.1:p.Val419Leu
NM_015678.4:c.7876G>T	NP_056493.3:p.Val2626Leu
XM_005266346.3:c.7861G>T	XP_005266403.1:p.Val2621Leu
XM_005266347.3:c.7939G>T	XP_005266404.2:p.Val2647Leu
XM_005266348.3:c.7930G>T	XP_005266405.2:p.Val2644Leu
XM_005266350.2:c.6961G>T	XP_005266407.1:p.Val2321Leu
XM_006719803.2:c.7924G>T	XP_006719866.1:p.Val2642Leu
XM_006719805.2:c.7852G>T	XP_006719868.1:p.Val2618Leu
XM_006719806.2:c.7867G>T	XP_006719869.1:p.Val2623Leu
XM_011535046.1:c.6502G>T	XP_011533348.1:p.Val2168Leu
XM_005266346.4:c.7861G>T	XP_005266403.1:p.Val2621Leu
XM_005266347.4:c.7939G>T	XP_005266404.2:p.Val2647Leu
XM_005266348.4:c.7930G>T	XP_005266405.2:p.Val2644Leu
XM_006719803.3:c.7924G>T	XP_006719866.1:p.Val2642Leu
XM_006719805.3:c.7852G>T	XP_006719868.1:p.Val2618Leu
XM_006719806.3:c.7867G>T	XP_006719869.1:p.Val2623Leu
XM_011535046.2:c.6502G>T	XP_011533348.1:p.Val2168Leu
XM_017020544.1:c.7921G>T	XP_016876033.1:p.Val2641Leu
XM_017020545.1:c.7858G>T	XP_016876034.1:p.Val2620Leu
XM_017020546.1:c.7618G>T	XP_016876035.1:p.Val2540Leu
XM_024449338.1:c.6553G>T	XP_024305106.1:p.Val2185Leu
NM_001204197.2:c.1255G>T	NP_001191126.1:p.Val419Leu
NM_015678.5:c.7876G>T	NP_056493.3:p.Val2626Leu
NM_001204197.3:c.1255G>T	NP_001191126.1:p.Val419Leu
NM_001379245.1:c.7930G>T	NP_001366174.1:p.Val2644Leu
NM_001385012.1:c.7939G>T MANE Select	NP_001371941.1:p.Val2647Leu