Canonical Allele Identifier: CA5540691

Gene: TBATA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70775209A>G , CM000672.2:g.70775209A>G	GRCh38
NC_000010.10:g.72534965A>G , CM000672.1:g.72534965A>G	GRCh37
NC_000010.9:g.72204971A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456372.4:c.755T>C MANE Select	ENSP00000400224.3:p.Leu252Pro
ENST00000685958.1:n.2150T>C
ENST00000688141.1:n.495T>C
ENST00000689622.1:c.749T>C	ENSP00000509608.1:p.Leu250Pro
ENST00000692183.1:c.752T>C	ENSP00000509602.1:p.Leu251Pro
ENST00000692747.1:c.691-852T>C	ENSP00000508807.1:n.691-852T>C
ENST00000693008.1:n.884T>C
ENST00000299290.5:c.752T>C	ENSP00000299290.1:p.Leu251Pro
ENST00000456372.3:c.755T>C	ENSP00000400224.3:p.Leu252Pro
NM_152710.2:c.752T>C	NP_689923.2:p.Leu251Pro
XM_005269615.1:c.752T>C	XP_005269672.1:p.Leu251Pro
XM_005269616.1:c.749T>C	XP_005269673.1:p.Leu250Pro
XM_006717701.2:c.392T>C	XP_006717764.1:p.Leu131Pro
XM_011539463.1:c.1031T>C	XP_011537765.1:p.Leu344Pro
XM_011539464.1:c.1031T>C	XP_011537766.1:p.Leu344Pro
XM_011539465.1:c.1028T>C	XP_011537767.1:p.Leu343Pro
XM_011539466.1:c.1028T>C	XP_011537768.1:p.Leu343Pro
XM_011539467.1:c.1025T>C	XP_011537769.1:p.Leu342Pro
XM_011539468.1:c.*19T>C	XP_011537770.1:n.*19T>C
XM_011539469.1:c.935T>C	XP_011537771.1:p.Leu312Pro
XM_011539470.1:c.932T>C	XP_011537772.1:p.Leu311Pro
XM_011539471.1:c.929T>C	XP_011537773.1:p.Leu310Pro
XM_011539472.1:c.1031T>C	XP_011537774.1:p.Leu344Pro
XM_011539473.1:c.1031T>C	XP_011537775.1:p.Leu344Pro
XM_011539474.1:c.869T>C	XP_011537776.1:p.Leu290Pro
XM_011539475.1:c.851T>C	XP_011537777.1:p.Leu284Pro
XM_011539476.1:c.851T>C	XP_011537778.1:p.Leu284Pro
XM_011539477.1:c.851T>C	XP_011537779.1:p.Leu284Pro
XM_011539478.1:c.1031T>C	XP_011537780.1:p.Leu344Pro
XM_011539479.1:c.935T>C	XP_011537781.1:p.Leu312Pro
XM_011539480.1:c.755T>C	XP_011537782.1:p.Leu252Pro
XM_011539481.1:c.755T>C	XP_011537783.1:p.Leu252Pro
XM_011539482.1:c.749T>C	XP_011537784.1:p.Leu250Pro
XM_011539483.1:c.494T>C	XP_011537785.1:p.Leu165Pro
XM_011539484.1:c.491T>C	XP_011537786.1:p.Leu164Pro
XM_011539485.1:c.353T>C	XP_011537787.1:p.Leu118Pro
XR_246078.1:n.1081-852T>C
XR_945619.1:n.1474T>C
XR_945620.1:n.1474T>C
XR_945621.1:n.1413-852T>C
XR_945622.1:n.1433T>C
XR_945624.1:n.1134-852T>C
NM_001318241.1:c.755T>C	NP_001305170.1:p.Leu252Pro
NM_001318242.1:c.752T>C	NP_001305171.1:p.Leu251Pro
NM_001318243.1:c.749T>C	NP_001305172.1:p.Leu250Pro
NM_152710.3:c.752T>C	NP_689923.3:p.Leu251Pro
NR_134531.1:n.1099-852T>C
NR_134532.1:n.1086T>C
NR_134533.1:n.702T>C
NR_134534.1:n.641-852T>C
XM_017015845.1:c.848T>C	XP_016871334.1:p.Leu283Pro
XM_017015846.1:c.848T>C	XP_016871335.1:p.Leu283Pro
XM_017015847.1:c.848T>C	XP_016871336.1:p.Leu283Pro
XM_017015848.1:c.848T>C	XP_016871337.1:p.Leu283Pro
XM_017015849.1:c.848T>C	XP_016871338.1:p.Leu283Pro
XM_017015850.1:c.*19T>C	XP_016871339.1:n.*19T>C
XM_017015851.1:c.*19T>C	XP_016871340.1:n.*19T>C
XM_017015852.1:c.848T>C	XP_016871341.1:p.Leu283Pro
XM_017015853.1:c.848T>C	XP_016871342.1:p.Leu283Pro
XM_017015854.1:c.848T>C	XP_016871343.1:p.Leu283Pro
XM_017015855.1:c.848T>C	XP_016871344.1:p.Leu283Pro
XM_017015856.1:c.848T>C	XP_016871345.1:p.Leu283Pro
XM_017015857.1:c.848T>C	XP_016871346.1:p.Leu283Pro
XM_017015858.1:c.909T>C	XP_016871347.1:p.Ala303=
XM_017015859.2:c.909T>C	XP_016871348.1:p.Ala303=
XM_017015860.1:c.786+1944T>C	XP_016871349.1:n.786+1944T>C
XM_017015861.2:c.787-852T>C	XP_016871350.1:n.787-852T>C
XM_017015862.1:c.*102T>C	XP_016871351.1:n.*102T>C
XR_001747054.1:n.1299T>C
XR_001747055.1:n.1299T>C
XR_001747056.1:n.1238T>C
XR_001747057.1:n.1177-852T>C
XR_002956967.1:n.1078-852T>C
NM_001318242.2:c.752T>C	NP_001305171.1:p.Leu251Pro
NM_001318243.2:c.749T>C	NP_001305172.1:p.Leu250Pro
NM_152710.4:c.752T>C	NP_689923.3:p.Leu251Pro
NR_134531.2:n.1057-852T>C
NM_001318241.2:c.755T>C MANE Select	NP_001305170.1:p.Leu252Pro
NR_134532.2:n.879T>C
NR_134533.2:n.495T>C
NR_134534.2:n.434-852T>C
NR_165441.1:n.1054-852T>C