Canonical Allele Identifier: CA3026587
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102632120C>T , CM000666.2:g.102632120C>T GRCh38
NC_000004.11:g.103553277C>T , CM000666.1:g.103553277C>T GRCh37
NC_000004.10:g.103772325C>T NCBI36
NG_012804.1:g.133875G>A
NG_012804.2:g.133875G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2577G>A MANE Select NP_005899.3:p.Glu859=
ENST00000647097.2:c.2577G>A MANE Select ENSP00000495247.1:p.Glu859=
NM_005908.3:c.2577G>A NP_005899.3:p.Glu859=
ENST00000226578.8:c.2577G>A ENSP00000226578.4:p.Glu859=
ENST00000505239.1:c.2406G>A ENSP00000427322.1:p.Glu802=
ENST00000514430.5:n.6812G>A
ENST00000642252.1:c.2715G>A ENSP00000495483.1:p.Glu905=
ENST00000644159.1:c.*139G>A ENSP00000494462.1:n.*139G>A
ENST00000644545.1:c.*1217G>A ENSP00000493992.1:n.*1217G>A
ENST00000645348.1:c.*1599G>A ENSP00000495363.1:n.*1599G>A
ENST00000645558.1:c.2245G>A
ENST00000646311.1:c.*1697G>A ENSP00000493465.1:n.*1697G>A
ENST00000646727.1:c.*1431G>A ENSP00000493519.1:n.*1431G>A
ENST00000647129.1:c.2666G>A ENSP00000496137.1:n.2666G>A
XM_011531965.1:c.1671G>A XP_011530267.1:p.Glu557=
XM_011531966.1:c.1332G>A XP_011530268.1:p.Glu444=
XM_017008203.1:c.2214G>A XP_016863692.1:p.Glu738=
XM_017008204.2:c.1929G>A XP_016863693.1:p.Glu643=
XM_017008205.2:c.1371G>A XP_016863694.1:p.Glu457=
XM_024454048.1:c.2502G>A XP_024309816.1:p.Glu834=
XM_024454049.1:c.2214G>A XP_024309817.1:p.Glu738=