Canonical Allele Identifier: CA3026755

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102639805C>T , CM000666.2:g.102639805C>T	GRCh38
NC_000004.11:g.103560962C>T , CM000666.1:g.103560962C>T	GRCh37
NC_000004.10:g.103780010C>T	NCBI36
NG_012804.1:g.126190G>A
NG_012804.2:g.126190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1922G>A MANE Select	NP_005899.3:p.Arg641His
ENST00000647097.2:c.1922G>A MANE Select	ENSP00000495247.1:p.Arg641His
NM_005908.3:c.1922G>A	NP_005899.3:p.Arg641His
ENST00000226578.8:c.1922G>A	ENSP00000226578.4:p.Arg641His
ENST00000505239.1:c.1751G>A	ENSP00000427322.1:p.Arg584His
ENST00000508141.1:n.355G>A
ENST00000514430.5:n.6157G>A
ENST00000642252.1:c.2060G>A	ENSP00000495483.1:p.Arg687His
ENST00000644159.1:c.1922G>A	ENSP00000494462.1:p.Arg641His
ENST00000644545.1:c.*562G>A	ENSP00000493992.1:n.*562G>A
ENST00000645348.1:c.*944G>A	ENSP00000495363.1:n.*944G>A
ENST00000645558.1:c.1590G>A
ENST00000646311.1:c.*1042G>A	ENSP00000493465.1:n.*1042G>A
ENST00000646727.1:c.*776G>A	ENSP00000493519.1:n.*776G>A
ENST00000647129.1:c.2011G>A	ENSP00000496137.1:n.2011G>A
XM_011531965.1:c.1016G>A	XP_011530267.1:p.Arg339His
XM_011531966.1:c.677G>A	XP_011530268.1:p.Arg226His
XM_017008203.1:c.1559G>A	XP_016863692.1:p.Arg520His
XM_017008204.2:c.1274G>A	XP_016863693.1:p.Arg425His
XM_017008205.2:c.716G>A	XP_016863694.1:p.Arg239His
XM_024454048.1:c.1847G>A	XP_024309816.1:p.Arg616His
XM_024454049.1:c.1559G>A	XP_024309817.1:p.Arg520His