Canonical Allele Identifier: CA115139

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102726614C>A , CM000666.2:g.102726614C>A	GRCh38
NC_000004.11:g.103647771C>A , CM000666.1:g.103647771C>A	GRCh37
NC_000004.10:g.103866815C>A	NCBI36
NG_012804.1:g.39381G>T
NG_012804.2:g.39381G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.247G>T MANE Select	NP_005899.3:p.Glu83Ter
ENST00000647097.2:c.247G>T MANE Select	ENSP00000495247.1:p.Glu83Ter
NM_005908.3:c.247G>T	NP_005899.3:p.Glu83Ter
ENST00000226578.8:c.247G>T	ENSP00000226578.4:p.Glu83Ter
ENST00000505239.1:c.247G>T	ENSP00000427322.1:p.Glu83Ter
ENST00000511813.1:c.*213G>T	ENSP00000422001.1:n.*213G>T
ENST00000514430.5:n.294G>T
ENST00000642252.1:c.247G>T	ENSP00000495483.1:p.Glu83Ter
ENST00000644159.1:c.247G>T	ENSP00000494462.1:p.Glu83Ter
ENST00000644545.1:c.247G>T	ENSP00000493992.1:p.Glu83Ter
ENST00000644965.1:c.*178-2647G>T	ENSP00000495818.1:n.*178-2647G>T
ENST00000645348.1:c.247G>T	ENSP00000495363.1:p.Glu83Ter
ENST00000646311.1:c.247G>T	ENSP00000493465.1:p.Glu83Ter
ENST00000646451.1:c.172G>T	ENSP00000495846.1:p.Glu58Ter
ENST00000646727.1:c.247G>T	ENSP00000493519.1:p.Glu83Ter
XM_017008203.1:c.-117G>T	XP_016863692.1:n.-117G>T
XM_017008204.2:c.-278G>T	XP_016863693.1:n.-278G>T
XM_024454048.1:c.172G>T	XP_024309816.1:p.Glu58Ter
XM_024454049.1:c.-117G>T	XP_024309817.1:n.-117G>T