Canonical Allele Identifier: CA3026808

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102650653G>A , CM000666.2:g.102650653G>A	GRCh38
NC_000004.11:g.103571810G>A , CM000666.1:g.103571810G>A	GRCh37
NC_000004.10:g.103790858G>A	NCBI36
NG_012804.1:g.115342C>T
NG_012804.2:g.115342C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1753C>T MANE Select	NP_005899.3:p.Arg585Ter
ENST00000647097.2:c.1753C>T MANE Select	ENSP00000495247.1:p.Arg585Ter
NM_005908.3:c.1753C>T	NP_005899.3:p.Arg585Ter
ENST00000226578.8:c.1753C>T	ENSP00000226578.4:p.Arg585Ter
ENST00000505239.1:c.1582C>T	ENSP00000427322.1:p.Arg528Ter
ENST00000508141.1:n.186C>T
ENST00000514430.5:n.5988C>T
ENST00000642252.1:c.1891C>T	ENSP00000495483.1:p.Arg631Ter
ENST00000644159.1:c.1753C>T	ENSP00000494462.1:p.Arg585Ter
ENST00000644545.1:c.*393C>T	ENSP00000493992.1:n.*393C>T
ENST00000645348.1:c.*775C>T	ENSP00000495363.1:n.*775C>T
ENST00000645558.1:c.1421C>T
ENST00000646311.1:c.*873C>T	ENSP00000493465.1:n.*873C>T
ENST00000646727.1:c.*607C>T	ENSP00000493519.1:n.*607C>T
ENST00000647129.1:c.1842C>T	ENSP00000496137.1:n.1842C>T
XM_011531965.1:c.847C>T	XP_011530267.1:p.Arg283Ter
XM_011531966.1:c.508C>T	XP_011530268.1:p.Arg170Ter
XM_017008203.1:c.1390C>T	XP_016863692.1:p.Arg464Ter
XM_017008204.2:c.1105C>T	XP_016863693.1:p.Arg369Ter
XM_017008205.2:c.547C>T	XP_016863694.1:p.Arg183Ter
XM_024454048.1:c.1678C>T	XP_024309816.1:p.Arg560Ter
XM_024454049.1:c.1390C>T	XP_024309817.1:p.Arg464Ter