Canonical Allele Identifier: CA3027208

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102722941C>T , CM000666.2:g.102722941C>T	GRCh38
NC_000004.11:g.103644098C>T , CM000666.1:g.103644098C>T	GRCh37
NC_000004.10:g.103863144C>T	NCBI36
NG_012804.1:g.43054G>A
NG_012804.2:g.43054G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.479G>A MANE Select	NP_005899.3:p.Arg160His
ENST00000647097.2:c.479G>A MANE Select	ENSP00000495247.1:p.Arg160His
NM_005908.3:c.479G>A	NP_005899.3:p.Arg160His
ENST00000226578.8:c.479G>A	ENSP00000226578.4:p.Arg160His
ENST00000505239.1:c.378+921G>A	ENSP00000427322.1:n.378+921G>A
ENST00000506478.1:n.124G>A
ENST00000514430.5:n.526G>A
ENST00000642252.1:c.479G>A	ENSP00000495483.1:p.Arg160His
ENST00000644159.1:c.479G>A	ENSP00000494462.1:p.Arg160His
ENST00000644545.1:c.479G>A	ENSP00000493992.1:p.Arg160His
ENST00000645348.1:c.479G>A	ENSP00000495363.1:p.Arg160His
ENST00000646311.1:c.479G>A	ENSP00000493465.1:p.Arg160His
ENST00000646451.1:c.404G>A	ENSP00000495846.1:p.Arg135His
ENST00000646727.1:c.479G>A	ENSP00000493519.1:p.Arg160His
ENST00000647129.1:c.161G>A	ENSP00000496137.1:p.Arg54His
XM_017008203.1:c.116G>A	XP_016863692.1:p.Arg39His
XM_017008204.2:c.-46G>A	XP_016863693.1:n.-46G>A
XM_024454048.1:c.404G>A	XP_024309816.1:p.Arg135His
XM_024454049.1:c.116G>A	XP_024309817.1:p.Arg39His