Canonical Allele Identifier: CA103130023

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102722875C>T , CM000666.2:g.102722875C>T	GRCh38
NC_000004.11:g.103644032C>T , CM000666.1:g.103644032C>T	GRCh37
NC_000004.10:g.103863078C>T	NCBI36
NG_012804.1:g.43120G>A
NG_012804.2:g.43120G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.545G>A MANE Select	NP_005899.3:p.Arg182Gln
ENST00000647097.2:c.545G>A MANE Select	ENSP00000495247.1:p.Arg182Gln
NM_005908.3:c.545G>A	NP_005899.3:p.Arg182Gln
ENST00000226578.8:c.545G>A	ENSP00000226578.4:p.Arg182Gln
ENST00000505239.1:c.378+987G>A	ENSP00000427322.1:n.378+987G>A
ENST00000506478.1:n.190G>A
ENST00000514430.5:n.592G>A
ENST00000642252.1:c.545G>A	ENSP00000495483.1:p.Arg182Gln
ENST00000644159.1:c.545G>A	ENSP00000494462.1:p.Arg182Gln
ENST00000644545.1:c.545G>A	ENSP00000493992.1:p.Arg182Gln
ENST00000645348.1:c.545G>A	ENSP00000495363.1:p.Arg182Gln
ENST00000645558.1:c.51G>A
ENST00000646311.1:c.545G>A	ENSP00000493465.1:p.Arg182Gln
ENST00000646451.1:c.470G>A	ENSP00000495846.1:p.Arg157Gln
ENST00000646727.1:c.545G>A	ENSP00000493519.1:p.Arg182Gln
ENST00000647129.1:c.227G>A	ENSP00000496137.1:p.Arg76Gln
XM_017008203.1:c.182G>A	XP_016863692.1:p.Arg61Gln
XM_017008204.2:c.21G>A	XP_016863693.1:p.Ser7=
XM_024454048.1:c.470G>A	XP_024309816.1:p.Arg157Gln
XM_024454049.1:c.182G>A	XP_024309817.1:p.Arg61Gln