Canonical Allele Identifier: CA357758131
Community Standard Title: NM_005908.4(MANBA):c.1705-1G>A
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102650702C>T , CM000666.2:g.102650702C>T GRCh38
NC_000004.11:g.103571859C>T , CM000666.1:g.103571859C>T GRCh37
NC_000004.10:g.103790907C>T NCBI36
NG_012804.1:g.115293G>A
NG_012804.2:g.115293G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.1705-1G>A MANE Select NP_005899.3:n.1705-1G>A
ENST00000647097.2:c.1705-1G>A MANE Select ENSP00000495247.1:n.1705-1G>A
NM_005908.3:c.1705-1G>A NP_005899.3:n.1705-1G>A
ENST00000226578.8:c.1705-1G>A ENSP00000226578.4:n.1705-1G>A
ENST00000505239.1:c.1534-1G>A ENSP00000427322.1:n.1534-1G>A
ENST00000508141.1:n.137G>A
ENST00000514430.5:n.5940-1G>A
ENST00000642252.1:c.1843-1G>A ENSP00000495483.1:n.1843-1G>A
ENST00000644159.1:c.1705-1G>A ENSP00000494462.1:n.1705-1G>A
ENST00000644545.1:c.*345-1G>A ENSP00000493992.1:n.*345-1G>A
ENST00000645348.1:c.*727-1G>A ENSP00000495363.1:n.*727-1G>A
ENST00000645558.1:c.1373-1G>A
ENST00000646311.1:c.*825-1G>A ENSP00000493465.1:n.*825-1G>A
ENST00000646727.1:c.*559-1G>A ENSP00000493519.1:n.*559-1G>A
ENST00000647129.1:c.1794-1G>A ENSP00000496137.1:n.1794-1G>A
XM_011531965.1:c.799-1G>A XP_011530267.1:n.799-1G>A
XM_011531966.1:c.460-1G>A XP_011530268.1:n.460-1G>A
XM_017008203.1:c.1342-1G>A XP_016863692.1:n.1342-1G>A
XM_017008204.2:c.1057-1G>A XP_016863693.1:n.1057-1G>A
XM_017008205.2:c.499-1G>A XP_016863694.1:n.499-1G>A
XM_024454048.1:c.1630-1G>A XP_024309816.1:n.1630-1G>A
XM_024454049.1:c.1342-1G>A XP_024309817.1:n.1342-1G>A