Canonical Allele Identifier: CA5540830

Gene: TBATA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70778601G>A , CM000672.2:g.70778601G>A	GRCh38
NC_000010.10:g.72538357G>A , CM000672.1:g.72538357G>A	GRCh37
NC_000010.9:g.72208363G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001318241.2:c.463C>T MANE Select	NP_001305170.1:p.Arg155Trp
ENST00000456372.4:c.463C>T MANE Select	ENSP00000400224.3:p.Arg155Trp
NM_001318241.1:c.463C>T	NP_001305170.1:p.Arg155Trp
NM_001318242.1:c.463C>T	NP_001305171.1:p.Arg155Trp
NM_001318242.2:c.463C>T	NP_001305171.1:p.Arg155Trp
NM_001318243.1:c.460C>T	NP_001305172.1:p.Arg154Trp
NM_001318243.2:c.460C>T	NP_001305172.1:p.Arg154Trp
NM_152710.2:c.463C>T	NP_689923.2:p.Arg155Trp
NM_152710.3:c.463C>T	NP_689923.3:p.Arg155Trp
NM_152710.4:c.463C>T	NP_689923.3:p.Arg155Trp
NR_134531.1:n.871C>T
NR_134531.2:n.829C>T
NR_134532.1:n.640C>T
NR_134532.2:n.433C>T
NR_134533.1:n.458-1266C>T
NR_134533.2:n.251-1266C>T
NR_134534.1:n.458-1266C>T
NR_134534.2:n.251-1266C>T
NR_165441.1:n.826C>T
ENST00000299290.5:c.463C>T	ENSP00000299290.1:p.Arg155Trp
ENST00000456372.3:c.463C>T	ENSP00000400224.3:p.Arg155Trp
ENST00000685958.1:n.824C>T
ENST00000688141.1:n.251-1266C>T
ENST00000688590.1:n.577C>T
ENST00000689622.1:c.460C>T	ENSP00000509608.1:p.Arg154Trp
ENST00000692183.1:c.463C>T	ENSP00000509602.1:p.Arg155Trp
ENST00000692747.1:c.463C>T	ENSP00000508807.1:p.Arg155Trp
ENST00000693008.1:n.438C>T
XM_005269615.1:c.463C>T	XP_005269672.1:p.Arg155Trp
XM_005269616.1:c.460C>T	XP_005269673.1:p.Arg154Trp
XM_006717701.2:c.103C>T	XP_006717764.1:p.Arg35Trp
XM_011539463.1:c.643C>T	XP_011537765.1:p.Arg215Trp
XM_011539464.1:c.643C>T	XP_011537766.1:p.Arg215Trp
XM_011539465.1:c.643C>T	XP_011537767.1:p.Arg215Trp
XM_011539466.1:c.640C>T	XP_011537768.1:p.Arg214Trp
XM_011539467.1:c.640C>T	XP_011537769.1:p.Arg214Trp
XM_011539468.1:c.640C>T	XP_011537770.1:p.Arg214Trp
XM_011539469.1:c.643C>T	XP_011537771.1:p.Arg215Trp
XM_011539470.1:c.643C>T	XP_011537772.1:p.Arg215Trp
XM_011539471.1:c.640C>T	XP_011537773.1:p.Arg214Trp
XM_011539472.1:c.643C>T	XP_011537774.1:p.Arg215Trp
XM_011539473.1:c.643C>T	XP_011537775.1:p.Arg215Trp
XM_011539474.1:c.624+992C>T	XP_011537776.1:n.624+992C>T
XM_011539475.1:c.463C>T	XP_011537777.1:p.Arg155Trp
XM_011539476.1:c.463C>T	XP_011537778.1:p.Arg155Trp
XM_011539477.1:c.463C>T	XP_011537779.1:p.Arg155Trp
XM_011539478.1:c.643C>T	XP_011537780.1:p.Arg215Trp
XM_011539479.1:c.643C>T	XP_011537781.1:p.Arg215Trp
XM_011539480.1:c.463C>T	XP_011537782.1:p.Arg155Trp
XM_011539481.1:c.463C>T	XP_011537783.1:p.Arg155Trp
XM_011539482.1:c.460C>T	XP_011537784.1:p.Arg154Trp
XM_011539483.1:c.106C>T	XP_011537785.1:p.Arg36Trp
XM_011539484.1:c.103C>T	XP_011537786.1:p.Arg35Trp
XM_011539486.1:c.*70C>T	XP_011537788.1:n.*70C>T
XM_011539487.1:c.*151C>T	XP_011537789.1:n.*151C>T
XM_017015845.1:c.463C>T	XP_016871334.1:p.Arg155Trp
XM_017015846.1:c.463C>T	XP_016871335.1:p.Arg155Trp
XM_017015847.1:c.463C>T	XP_016871336.1:p.Arg155Trp
XM_017015848.1:c.463C>T	XP_016871337.1:p.Arg155Trp
XM_017015849.1:c.463C>T	XP_016871338.1:p.Arg155Trp
XM_017015850.1:c.463C>T	XP_016871339.1:p.Arg155Trp
XM_017015851.1:c.460C>T	XP_016871340.1:p.Arg154Trp
XM_017015852.1:c.463C>T	XP_016871341.1:p.Arg155Trp
XM_017015853.1:c.463C>T	XP_016871342.1:p.Arg155Trp
XM_017015854.1:c.463C>T	XP_016871343.1:p.Arg155Trp
XM_017015855.1:c.463C>T	XP_016871344.1:p.Arg155Trp
XM_017015856.1:c.463C>T	XP_016871345.1:p.Arg155Trp
XM_017015857.1:c.463C>T	XP_016871346.1:p.Arg155Trp
XM_017015858.1:c.463C>T	XP_016871347.1:p.Arg155Trp
XM_017015859.2:c.463C>T	XP_016871348.1:p.Arg155Trp
XM_017015860.1:c.463C>T	XP_016871349.1:p.Arg155Trp
XM_017015861.2:c.463C>T	XP_016871350.1:p.Arg155Trp
XM_017015862.1:c.463C>T	XP_016871351.1:p.Arg155Trp
XR_001747054.1:n.853C>T
XR_001747055.1:n.853C>T
XR_001747056.1:n.853C>T
XR_001747057.1:n.853C>T
XR_001747058.1:n.853C>T
XR_002956967.1:n.850C>T
XR_246078.1:n.853C>T
XR_945619.1:n.1086C>T
XR_945620.1:n.1086C>T
XR_945621.1:n.1086C>T
XR_945622.1:n.1086C>T
XR_945623.1:n.1086C>T
XR_945624.1:n.906C>T
XR_945625.1:n.1086C>T
XR_945626.1:n.1083C>T