Canonical Allele Identifier: CA3026676

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635023G>A , CM000666.2:g.102635023G>A	GRCh38
NC_000004.11:g.103556180G>A , CM000666.1:g.103556180G>A	GRCh37
NC_000004.10:g.103775228G>A	NCBI36
NG_012804.1:g.130972C>T
NG_012804.2:g.130972C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2180C>T MANE Select	NP_005899.3:p.Ser727Phe
ENST00000647097.2:c.2180C>T MANE Select	ENSP00000495247.1:p.Ser727Phe
NM_005908.3:c.2180C>T	NP_005899.3:p.Ser727Phe
ENST00000226578.8:c.2180C>T	ENSP00000226578.4:p.Ser727Phe
ENST00000505239.1:c.2009C>T	ENSP00000427322.1:p.Ser670Phe
ENST00000514430.5:n.6415C>T
ENST00000642252.1:c.2318C>T	ENSP00000495483.1:p.Ser773Phe
ENST00000644159.1:c.2180C>T	ENSP00000494462.1:p.Ser727Phe
ENST00000644545.1:c.*820C>T	ENSP00000493992.1:n.*820C>T
ENST00000645348.1:c.*1202C>T	ENSP00000495363.1:n.*1202C>T
ENST00000645558.1:c.1848C>T
ENST00000646311.1:c.*1300C>T	ENSP00000493465.1:n.*1300C>T
ENST00000646727.1:c.*1034C>T	ENSP00000493519.1:n.*1034C>T
ENST00000647129.1:c.2269C>T	ENSP00000496137.1:n.2269C>T
XM_011531965.1:c.1274C>T	XP_011530267.1:p.Ser425Phe
XM_011531966.1:c.935C>T	XP_011530268.1:p.Ser312Phe
XM_017008203.1:c.1817C>T	XP_016863692.1:p.Ser606Phe
XM_017008204.2:c.1532C>T	XP_016863693.1:p.Ser511Phe
XM_017008205.2:c.974C>T	XP_016863694.1:p.Ser325Phe
XM_024454048.1:c.2105C>T	XP_024309816.1:p.Ser702Phe
XM_024454049.1:c.1817C>T	XP_024309817.1:p.Ser606Phe