Canonical Allele Identifier: CA387959182

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35044976G>A , CM000675.2:g.35044976G>A	GRCh38
NC_000013.10:g.35619113G>A , CM000675.1:g.35619113G>A	GRCh37
NC_000013.9:g.34517113G>A	NCBI36
NG_028156.1:g.107690G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001385012.1:c.556G>A MANE Select	NP_001371941.1:p.Ala186Thr
ENST00000379939.7:c.556G>A MANE Select	ENSP00000369271.2:p.Ala186Thr
NM_001379245.1:c.556G>A	NP_001366174.1:p.Ala186Thr
NM_015678.4:c.556G>A	NP_056493.3:p.Ala186Thr
NM_015678.5:c.556G>A	NP_056493.3:p.Ala186Thr
ENST00000310336.8:c.556G>A	ENSP00000308534.5:p.Ala186Thr
ENST00000379939.6:c.556G>A	ENSP00000369271.1:p.Ala186Thr
ENST00000400445.7:c.556G>A	ENSP00000383295.3:p.Ala186Thr
ENST00000400445.8:c.556G>A	ENSP00000383295.3:p.Ala186Thr
ENST00000629018.2:c.556G>A	ENSP00000486239.1:p.Ala186Thr
ENST00000685025.1:n.335G>A
ENST00000685717.1:n.493G>A
ENST00000686320.1:c.526+3812G>A	ENSP00000508724.1:n.526+3812G>A
ENST00000686972.1:c.526+3812G>A	ENSP00000509765.1:n.526+3812G>A
ENST00000691351.1:c.556G>A	ENSP00000509284.1:p.Ala186Thr
ENST00000692628.1:c.526+3812G>A	ENSP00000509105.1:n.526+3812G>A
XM_005266346.3:c.556G>A	XP_005266403.1:p.Ala186Thr
XM_005266346.4:c.556G>A	XP_005266403.1:p.Ala186Thr
XM_005266347.3:c.556G>A	XP_005266404.2:p.Ala186Thr
XM_005266347.4:c.556G>A	XP_005266404.2:p.Ala186Thr
XM_005266348.3:c.556G>A	XP_005266405.2:p.Ala186Thr
XM_005266348.4:c.556G>A	XP_005266405.2:p.Ala186Thr
XM_005266350.2:c.-7+3812G>A	XP_005266407.1:n.-7+3812G>A
XM_006719803.2:c.556G>A	XP_006719866.1:p.Ala186Thr
XM_006719803.3:c.556G>A	XP_006719866.1:p.Ala186Thr
XM_006719805.2:c.556G>A	XP_006719868.1:p.Ala186Thr
XM_006719805.3:c.556G>A	XP_006719868.1:p.Ala186Thr
XM_006719806.2:c.556G>A	XP_006719869.1:p.Ala186Thr
XM_006719806.3:c.556G>A	XP_006719869.1:p.Ala186Thr
XM_011535045.1:c.556G>A	XP_011533347.1:p.Ala186Thr
XM_011535047.1:c.556G>A	XP_011533349.1:p.Ala186Thr
XM_011535047.2:c.556G>A	XP_011533349.1:p.Ala186Thr
XM_017020544.1:c.556G>A	XP_016876033.1:p.Ala186Thr
XM_017020545.1:c.556G>A	XP_016876034.1:p.Ala186Thr
XM_017020546.1:c.235G>A	XP_016876035.1:p.Ala79Thr