Canonical Allele Identifier: CA3027256

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102723865T>C , CM000666.2:g.102723865T>C	GRCh38
NC_000004.11:g.103645022T>C , CM000666.1:g.103645022T>C	GRCh37
NC_000004.10:g.103864068T>C	NCBI36
NG_012804.1:g.42130A>G
NG_012804.2:g.42130A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.375A>G MANE Select	NP_005899.3:p.Arg125=
ENST00000647097.2:c.375A>G MANE Select	ENSP00000495247.1:p.Arg125=
NM_005908.3:c.375A>G	NP_005899.3:p.Arg125=
ENST00000226578.8:c.375A>G	ENSP00000226578.4:p.Arg125=
ENST00000505239.1:c.375A>G	ENSP00000427322.1:p.Arg125=
ENST00000506478.1:n.20A>G
ENST00000514430.5:n.422A>G
ENST00000642252.1:c.375A>G	ENSP00000495483.1:p.Arg125=
ENST00000644159.1:c.375A>G	ENSP00000494462.1:p.Arg125=
ENST00000644545.1:c.375A>G	ENSP00000493992.1:p.Arg125=
ENST00000644965.1:c.*280A>G	ENSP00000495818.1:n.*280A>G
ENST00000645348.1:c.375A>G	ENSP00000495363.1:p.Arg125=
ENST00000646311.1:c.375A>G	ENSP00000493465.1:p.Arg125=
ENST00000646451.1:c.300A>G	ENSP00000495846.1:p.Arg100=
ENST00000646727.1:c.375A>G	ENSP00000493519.1:p.Arg125=
ENST00000647129.1:c.57A>G	ENSP00000496137.1:p.Arg19=
XM_017008203.1:c.12A>G	XP_016863692.1:p.Arg4=
XM_017008204.2:c.-150A>G	XP_016863693.1:n.-150A>G
XM_024454048.1:c.300A>G	XP_024309816.1:p.Arg100=
XM_024454049.1:c.12A>G	XP_024309817.1:p.Arg4=