Canonical Allele Identifier: CA3026760

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102639814C>T , CM000666.2:g.102639814C>T	GRCh38
NC_000004.11:g.103560971C>T , CM000666.1:g.103560971C>T	GRCh37
NC_000004.10:g.103780019C>T	NCBI36
NG_012804.1:g.126181G>A
NG_012804.2:g.126181G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1913G>A MANE Select	NP_005899.3:p.Arg638His
ENST00000647097.2:c.1913G>A MANE Select	ENSP00000495247.1:p.Arg638His
NM_005908.3:c.1913G>A	NP_005899.3:p.Arg638His
ENST00000226578.8:c.1913G>A	ENSP00000226578.4:p.Arg638His
ENST00000505239.1:c.1742G>A	ENSP00000427322.1:p.Arg581His
ENST00000508141.1:n.346G>A
ENST00000514430.5:n.6148G>A
ENST00000642252.1:c.2051G>A	ENSP00000495483.1:p.Arg684His
ENST00000644159.1:c.1913G>A	ENSP00000494462.1:p.Arg638His
ENST00000644545.1:c.*553G>A	ENSP00000493992.1:n.*553G>A
ENST00000645348.1:c.*935G>A	ENSP00000495363.1:n.*935G>A
ENST00000645558.1:c.1581G>A
ENST00000646311.1:c.*1033G>A	ENSP00000493465.1:n.*1033G>A
ENST00000646727.1:c.*767G>A	ENSP00000493519.1:n.*767G>A
ENST00000647129.1:c.2002G>A	ENSP00000496137.1:n.2002G>A
XM_011531965.1:c.1007G>A	XP_011530267.1:p.Arg336His
XM_011531966.1:c.668G>A	XP_011530268.1:p.Arg223His
XM_017008203.1:c.1550G>A	XP_016863692.1:p.Arg517His
XM_017008204.2:c.1265G>A	XP_016863693.1:p.Arg422His
XM_017008205.2:c.707G>A	XP_016863694.1:p.Arg236His
XM_024454048.1:c.1838G>A	XP_024309816.1:p.Arg613His
XM_024454049.1:c.1550G>A	XP_024309817.1:p.Arg517His