Canonical Allele Identifier: CA387834458

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35196119C>T , CM000675.2:g.35196119C>T	GRCh38
NC_000013.10:g.35770256C>T , CM000675.1:g.35770256C>T	GRCh37
NC_000013.9:g.34668256C>T	NCBI36
NG_028156.1:g.258833C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001385012.1:c.5183C>T MANE Select	NP_001371941.1:p.Pro1728Leu
ENST00000379939.7:c.5183C>T MANE Select	ENSP00000369271.2:p.Pro1728Leu
NM_001379245.1:c.5174C>T	NP_001366174.1:p.Pro1725Leu
NM_015678.4:c.5183C>T	NP_056493.3:p.Pro1728Leu
NM_015678.5:c.5183C>T	NP_056493.3:p.Pro1728Leu
ENST00000310336.8:c.5186C>T	ENSP00000308534.5:p.Pro1729Leu
ENST00000379939.6:c.5174C>T	ENSP00000369271.1:p.Pro1725Leu
ENST00000400445.7:c.5183C>T	ENSP00000383295.3:p.Pro1728Leu
ENST00000400445.8:c.5183C>T	ENSP00000383295.3:p.Pro1728Leu
ENST00000629018.2:c.5183C>T	ENSP00000486239.1:p.Pro1728Leu
ENST00000629018.3:c.1047C>T
ENST00000629018.4:c.845C>T	ENSP00000486239.3:p.Pro282Leu
ENST00000686320.1:c.526+154955C>T	ENSP00000508724.1:n.526+154955C>T
ENST00000686386.1:n.1119C>T
ENST00000687868.1:n.772C>T
ENST00000688363.1:c.2933C>T	ENSP00000510178.1:p.Pro978Leu
ENST00000688626.1:c.3029C>T	ENSP00000509239.1:p.Pro1010Leu
ENST00000689207.1:n.1473C>T
ENST00000690712.1:c.2942C>T	ENSP00000510796.1:p.Pro981Leu
ENST00000691196.1:c.3627C>T
ENST00000692737.1:n.129C>T
XM_005266346.3:c.5183C>T	XP_005266403.1:p.Pro1728Leu
XM_005266346.4:c.5183C>T	XP_005266403.1:p.Pro1728Leu
XM_005266347.3:c.5183C>T	XP_005266404.2:p.Pro1728Leu
XM_005266347.4:c.5183C>T	XP_005266404.2:p.Pro1728Leu
XM_005266348.3:c.5174C>T	XP_005266405.2:p.Pro1725Leu
XM_005266348.4:c.5174C>T	XP_005266405.2:p.Pro1725Leu
XM_005266350.2:c.4205C>T	XP_005266407.1:p.Pro1402Leu
XM_006719803.2:c.5183C>T	XP_006719866.1:p.Pro1728Leu
XM_006719803.3:c.5183C>T	XP_006719866.1:p.Pro1728Leu
XM_006719805.2:c.5174C>T	XP_006719868.1:p.Pro1725Leu
XM_006719805.3:c.5174C>T	XP_006719868.1:p.Pro1725Leu
XM_006719806.2:c.5174C>T	XP_006719869.1:p.Pro1725Leu
XM_006719806.3:c.5174C>T	XP_006719869.1:p.Pro1725Leu
XM_011535045.1:c.5183C>T	XP_011533347.1:p.Pro1728Leu
XM_011535046.1:c.3746C>T	XP_011533348.1:p.Pro1249Leu
XM_011535046.2:c.3746C>T	XP_011533348.1:p.Pro1249Leu
XM_011535047.1:c.5183C>T	XP_011533349.1:p.Pro1728Leu
XM_011535047.2:c.5183C>T	XP_011533349.1:p.Pro1728Leu
XM_017020544.1:c.5183C>T	XP_016876033.1:p.Pro1728Leu
XM_017020545.1:c.5183C>T	XP_016876034.1:p.Pro1728Leu
XM_017020546.1:c.4862C>T	XP_016876035.1:p.Pro1621Leu
XM_024449338.1:c.3797C>T	XP_024305106.1:p.Pro1266Leu