Canonical Allele Identifier: CA387834783

Gene: NBEA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.35196275T>C , CM000675.2:g.35196275T>C	GRCh38
NC_000013.10:g.35770412T>C , CM000675.1:g.35770412T>C	GRCh37
NC_000013.9:g.34668412T>C	NCBI36
NG_028156.1:g.258989T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001385012.1:c.5339T>C MANE Select	NP_001371941.1:p.Leu1780Pro
ENST00000379939.7:c.5339T>C MANE Select	ENSP00000369271.2:p.Leu1780Pro
NM_001379245.1:c.5330T>C	NP_001366174.1:p.Leu1777Pro
NM_015678.4:c.5339T>C	NP_056493.3:p.Leu1780Pro
NM_015678.5:c.5339T>C	NP_056493.3:p.Leu1780Pro
ENST00000310336.8:c.5342T>C	ENSP00000308534.5:p.Leu1781Pro
ENST00000379939.6:c.5330T>C	ENSP00000369271.1:p.Leu1777Pro
ENST00000400445.7:c.5339T>C	ENSP00000383295.3:p.Leu1780Pro
ENST00000400445.8:c.5339T>C	ENSP00000383295.3:p.Leu1780Pro
ENST00000629018.2:c.5339T>C	ENSP00000486239.1:p.Leu1780Pro
ENST00000629018.3:c.1203T>C
ENST00000629018.4:c.1001T>C	ENSP00000486239.3:p.Leu334Pro
ENST00000686320.1:c.526+155111T>C	ENSP00000508724.1:n.526+155111T>C
ENST00000686386.1:n.1275T>C
ENST00000687868.1:n.928T>C
ENST00000688363.1:c.3089T>C	ENSP00000510178.1:p.Leu1030Pro
ENST00000688626.1:c.3185T>C	ENSP00000509239.1:p.Leu1062Pro
ENST00000689207.1:n.1629T>C
ENST00000690712.1:c.3098T>C	ENSP00000510796.1:p.Leu1033Pro
ENST00000691097.1:n.49T>C
ENST00000691196.1:c.3783T>C
ENST00000692737.1:n.285T>C
XM_005266346.3:c.5339T>C	XP_005266403.1:p.Leu1780Pro
XM_005266346.4:c.5339T>C	XP_005266403.1:p.Leu1780Pro
XM_005266347.3:c.5339T>C	XP_005266404.2:p.Leu1780Pro
XM_005266347.4:c.5339T>C	XP_005266404.2:p.Leu1780Pro
XM_005266348.3:c.5330T>C	XP_005266405.2:p.Leu1777Pro
XM_005266348.4:c.5330T>C	XP_005266405.2:p.Leu1777Pro
XM_005266350.2:c.4361T>C	XP_005266407.1:p.Leu1454Pro
XM_006719803.2:c.5339T>C	XP_006719866.1:p.Leu1780Pro
XM_006719803.3:c.5339T>C	XP_006719866.1:p.Leu1780Pro
XM_006719805.2:c.5330T>C	XP_006719868.1:p.Leu1777Pro
XM_006719805.3:c.5330T>C	XP_006719868.1:p.Leu1777Pro
XM_006719806.2:c.5330T>C	XP_006719869.1:p.Leu1777Pro
XM_006719806.3:c.5330T>C	XP_006719869.1:p.Leu1777Pro
XM_011535045.1:c.5339T>C	XP_011533347.1:p.Leu1780Pro
XM_011535046.1:c.3902T>C	XP_011533348.1:p.Leu1301Pro
XM_011535046.2:c.3902T>C	XP_011533348.1:p.Leu1301Pro
XM_011535047.1:c.5339T>C	XP_011533349.1:p.Leu1780Pro
XM_011535047.2:c.5339T>C	XP_011533349.1:p.Leu1780Pro
XM_017020544.1:c.5339T>C	XP_016876033.1:p.Leu1780Pro
XM_017020545.1:c.5339T>C	XP_016876034.1:p.Leu1780Pro
XM_017020546.1:c.5018T>C	XP_016876035.1:p.Leu1673Pro
XM_024449338.1:c.3953T>C	XP_024305106.1:p.Leu1318Pro