Canonical Allele Identifier: CA3027199

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102722889A>G , CM000666.2:g.102722889A>G	GRCh38
NC_000004.11:g.103644046A>G , CM000666.1:g.103644046A>G	GRCh37
NC_000004.10:g.103863092A>G	NCBI36
NG_012804.1:g.43106T>C
NG_012804.2:g.43106T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.531T>C MANE Select	NP_005899.3:p.His177=
ENST00000647097.2:c.531T>C MANE Select	ENSP00000495247.1:p.His177=
NM_005908.3:c.531T>C	NP_005899.3:p.His177=
ENST00000226578.8:c.531T>C	ENSP00000226578.4:p.His177=
ENST00000505239.1:c.378+973T>C	ENSP00000427322.1:n.378+973T>C
ENST00000506478.1:n.176T>C
ENST00000514430.5:n.578T>C
ENST00000642252.1:c.531T>C	ENSP00000495483.1:p.His177=
ENST00000644159.1:c.531T>C	ENSP00000494462.1:p.His177=
ENST00000644545.1:c.531T>C	ENSP00000493992.1:p.His177=
ENST00000645348.1:c.531T>C	ENSP00000495363.1:p.His177=
ENST00000645558.1:c.37T>C
ENST00000646311.1:c.531T>C	ENSP00000493465.1:p.His177=
ENST00000646451.1:c.456T>C	ENSP00000495846.1:p.His152=
ENST00000646727.1:c.531T>C	ENSP00000493519.1:p.His177=
ENST00000647129.1:c.213T>C	ENSP00000496137.1:p.His71=
XM_017008203.1:c.168T>C	XP_016863692.1:p.His56=
XM_017008204.2:c.7T>C	XP_016863693.1:p.Cys3Arg
XM_024454048.1:c.456T>C	XP_024309816.1:p.His152=
XM_024454049.1:c.168T>C	XP_024309817.1:p.His56=