Canonical Allele Identifier: CA387833234

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35183991C>A , CM000675.2:g.35183991C>A	GRCh38
NC_000013.10:g.35758128C>A , CM000675.1:g.35758128C>A	GRCh37
NC_000013.9:g.34656128C>A	NCBI36
NG_028156.1:g.246705C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400445.8:c.4847C>A	ENSP00000383295.3:p.Ser1616Tyr
ENST00000629018.4:c.589+1463C>A	ENSP00000486239.3:n.589+1463C>A
ENST00000686320.1:c.526+142827C>A	ENSP00000508724.1:n.526+142827C>A
ENST00000686386.1:n.783C>A
ENST00000687868.1:n.436C>A
ENST00000688363.1:c.2677+1463C>A	ENSP00000510178.1:n.2677+1463C>A
ENST00000688626.1:c.2693C>A	ENSP00000509239.1:p.Ser898Tyr
ENST00000689207.1:n.1137C>A
ENST00000690712.1:c.2686+1463C>A	ENSP00000510796.1:n.2686+1463C>A
ENST00000691196.1:c.3276C>A
ENST00000379939.7:c.4847C>A MANE Select	ENSP00000369271.2:p.Ser1616Tyr
ENST00000629018.3:c.791+1463C>A
ENST00000310336.8:c.4850C>A	ENSP00000308534.5:p.Ser1617Tyr
ENST00000379939.6:c.4838C>A	ENSP00000369271.1:p.Ser1613Tyr
ENST00000400445.7:c.4847C>A	ENSP00000383295.3:p.Ser1616Tyr
ENST00000629018.2:c.4847C>A	ENSP00000486239.1:p.Ser1616Tyr
NM_015678.4:c.4847C>A	NP_056493.3:p.Ser1616Tyr
XM_005266346.3:c.4847C>A	XP_005266403.1:p.Ser1616Tyr
XM_005266347.3:c.4847C>A	XP_005266404.2:p.Ser1616Tyr
XM_005266348.3:c.4838C>A	XP_005266405.2:p.Ser1613Tyr
XM_005266350.2:c.3869C>A	XP_005266407.1:p.Ser1290Tyr
XM_006719803.2:c.4847C>A	XP_006719866.1:p.Ser1616Tyr
XM_006719805.2:c.4838C>A	XP_006719868.1:p.Ser1613Tyr
XM_006719806.2:c.4838C>A	XP_006719869.1:p.Ser1613Tyr
XM_011535045.1:c.4847C>A	XP_011533347.1:p.Ser1616Tyr
XM_011535046.1:c.3410C>A	XP_011533348.1:p.Ser1137Tyr
XM_011535047.1:c.4847C>A	XP_011533349.1:p.Ser1616Tyr
XM_005266346.4:c.4847C>A	XP_005266403.1:p.Ser1616Tyr
XM_005266347.4:c.4847C>A	XP_005266404.2:p.Ser1616Tyr
XM_005266348.4:c.4838C>A	XP_005266405.2:p.Ser1613Tyr
XM_006719803.3:c.4847C>A	XP_006719866.1:p.Ser1616Tyr
XM_006719805.3:c.4838C>A	XP_006719868.1:p.Ser1613Tyr
XM_006719806.3:c.4838C>A	XP_006719869.1:p.Ser1613Tyr
XM_011535046.2:c.3410C>A	XP_011533348.1:p.Ser1137Tyr
XM_011535047.2:c.4847C>A	XP_011533349.1:p.Ser1616Tyr
XM_017020544.1:c.4847C>A	XP_016876033.1:p.Ser1616Tyr
XM_017020545.1:c.4847C>A	XP_016876034.1:p.Ser1616Tyr
XM_017020546.1:c.4526C>A	XP_016876035.1:p.Ser1509Tyr
XM_024449338.1:c.3461C>A	XP_024305106.1:p.Ser1154Tyr
NM_015678.5:c.4847C>A	NP_056493.3:p.Ser1616Tyr
NM_001379245.1:c.4838C>A	NP_001366174.1:p.Ser1613Tyr
NM_001385012.1:c.4847C>A MANE Select	NP_001371941.1:p.Ser1616Tyr