Canonical Allele Identifier: CA387837709

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35159577A>G , CM000675.2:g.35159577A>G	GRCh38
NC_000013.10:g.35733714A>G , CM000675.1:g.35733714A>G	GRCh37
NC_000013.9:g.34631714A>G	NCBI36
NG_028156.1:g.222291A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001385012.1:c.3406A>G MANE Select	NP_001371941.1:p.Lys1136Glu
ENST00000379939.7:c.3406A>G MANE Select	ENSP00000369271.2:p.Lys1136Glu
NM_001379245.1:c.3406A>G	NP_001366174.1:p.Lys1136Glu
NM_015678.4:c.3406A>G	NP_056493.3:p.Lys1136Glu
NM_015678.5:c.3406A>G	NP_056493.3:p.Lys1136Glu
ENST00000310336.8:c.3406A>G	ENSP00000308534.5:p.Lys1136Glu
ENST00000379939.6:c.3406A>G	ENSP00000369271.1:p.Lys1136Glu
ENST00000400445.7:c.3406A>G	ENSP00000383295.3:p.Lys1136Glu
ENST00000400445.8:c.3406A>G	ENSP00000383295.3:p.Lys1136Glu
ENST00000629018.2:c.3406A>G	ENSP00000486239.1:p.Lys1136Glu
ENST00000686320.1:c.526+118413A>G	ENSP00000508724.1:n.526+118413A>G
ENST00000687732.1:n.1830A>G
ENST00000688363.1:c.1261A>G	ENSP00000510178.1:p.Lys421Glu
ENST00000688626.1:c.1261A>G	ENSP00000509239.1:p.Lys421Glu
ENST00000690712.1:c.1261A>G	ENSP00000510796.1:p.Lys421Glu
ENST00000691196.1:c.1835A>G
ENST00000691351.1:c.3139A>G	ENSP00000509284.1:p.Lys1047Glu
XM_005266346.3:c.3406A>G	XP_005266403.1:p.Lys1136Glu
XM_005266346.4:c.3406A>G	XP_005266403.1:p.Lys1136Glu
XM_005266347.3:c.3406A>G	XP_005266404.2:p.Lys1136Glu
XM_005266347.4:c.3406A>G	XP_005266404.2:p.Lys1136Glu
XM_005266348.3:c.3406A>G	XP_005266405.2:p.Lys1136Glu
XM_005266348.4:c.3406A>G	XP_005266405.2:p.Lys1136Glu
XM_005266350.2:c.2428A>G	XP_005266407.1:p.Lys810Glu
XM_006719803.2:c.3406A>G	XP_006719866.1:p.Lys1136Glu
XM_006719803.3:c.3406A>G	XP_006719866.1:p.Lys1136Glu
XM_006719805.2:c.3406A>G	XP_006719868.1:p.Lys1136Glu
XM_006719805.3:c.3406A>G	XP_006719868.1:p.Lys1136Glu
XM_006719806.2:c.3406A>G	XP_006719869.1:p.Lys1136Glu
XM_006719806.3:c.3406A>G	XP_006719869.1:p.Lys1136Glu
XM_011535045.1:c.3406A>G	XP_011533347.1:p.Lys1136Glu
XM_011535046.1:c.1969A>G	XP_011533348.1:p.Lys657Glu
XM_011535046.2:c.1969A>G	XP_011533348.1:p.Lys657Glu
XM_011535047.1:c.3406A>G	XP_011533349.1:p.Lys1136Glu
XM_011535047.2:c.3406A>G	XP_011533349.1:p.Lys1136Glu
XM_017020544.1:c.3406A>G	XP_016876033.1:p.Lys1136Glu
XM_017020545.1:c.3406A>G	XP_016876034.1:p.Lys1136Glu
XM_017020546.1:c.3085A>G	XP_016876035.1:p.Lys1029Glu
XM_024449338.1:c.2020A>G	XP_024305106.1:p.Lys674Glu