Canonical Allele Identifier: CA357759023

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657852C>A , CM000666.2:g.102657852C>A	GRCh38
NC_000004.11:g.103579009C>A , CM000666.1:g.103579009C>A	GRCh37
NC_000004.10:g.103798057C>A	NCBI36
NG_012804.1:g.108143G>T
NG_012804.2:g.108143G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1534G>T MANE Select	NP_005899.3:p.Glu512Ter
ENST00000647097.2:c.1534G>T MANE Select	ENSP00000495247.1:p.Glu512Ter
NM_005908.3:c.1534G>T	NP_005899.3:p.Glu512Ter
ENST00000226578.8:c.1534G>T	ENSP00000226578.4:p.Glu512Ter
ENST00000505239.1:c.1363G>T	ENSP00000427322.1:p.Glu455Ter
ENST00000514430.5:n.5769G>T
ENST00000642252.1:c.1672G>T	ENSP00000495483.1:p.Glu558Ter
ENST00000644159.1:c.1534G>T	ENSP00000494462.1:p.Glu512Ter
ENST00000644545.1:c.*174G>T	ENSP00000493992.1:n.*174G>T
ENST00000645348.1:c.*556G>T	ENSP00000495363.1:n.*556G>T
ENST00000645558.1:c.1202G>T
ENST00000646311.1:c.*654G>T	ENSP00000493465.1:n.*654G>T
ENST00000646727.1:c.*388G>T	ENSP00000493519.1:n.*388G>T
ENST00000647129.1:c.1623G>T	ENSP00000496137.1:n.1623G>T
XM_011531965.1:c.628G>T	XP_011530267.1:p.Glu210Ter
XM_011531966.1:c.289G>T	XP_011530268.1:p.Glu97Ter
XM_017008203.1:c.1171G>T	XP_016863692.1:p.Glu391Ter
XM_017008204.2:c.886G>T	XP_016863693.1:p.Glu296Ter
XM_017008205.2:c.328G>T	XP_016863694.1:p.Glu110Ter
XM_024454048.1:c.1459G>T	XP_024309816.1:p.Glu487Ter
XM_024454049.1:c.1171G>T	XP_024309817.1:p.Glu391Ter