Canonical Allele Identifier: CA3026873

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657887C>T , CM000666.2:g.102657887C>T	GRCh38
NC_000004.11:g.103579044C>T , CM000666.1:g.103579044C>T	GRCh37
NC_000004.10:g.103798092C>T	NCBI36
NG_012804.1:g.108108G>A
NG_012804.2:g.108108G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1499G>A MANE Select	NP_005899.3:p.Arg500His
ENST00000647097.2:c.1499G>A MANE Select	ENSP00000495247.1:p.Arg500His
NM_005908.3:c.1499G>A	NP_005899.3:p.Arg500His
ENST00000226578.8:c.1499G>A	ENSP00000226578.4:p.Arg500His
ENST00000505239.1:c.1328G>A	ENSP00000427322.1:p.Arg443His
ENST00000514430.5:n.5734G>A
ENST00000642252.1:c.1637G>A	ENSP00000495483.1:p.Arg546His
ENST00000644159.1:c.1499G>A	ENSP00000494462.1:p.Arg500His
ENST00000644545.1:c.*139G>A	ENSP00000493992.1:n.*139G>A
ENST00000645348.1:c.*521G>A	ENSP00000495363.1:n.*521G>A
ENST00000645558.1:c.1167G>A
ENST00000646311.1:c.*619G>A	ENSP00000493465.1:n.*619G>A
ENST00000646727.1:c.*353G>A	ENSP00000493519.1:n.*353G>A
ENST00000647129.1:c.1588G>A	ENSP00000496137.1:n.1588G>A
XM_011531965.1:c.593G>A	XP_011530267.1:p.Arg198His
XM_011531966.1:c.254G>A	XP_011530268.1:p.Arg85His
XM_017008203.1:c.1136G>A	XP_016863692.1:p.Arg379His
XM_017008204.2:c.851G>A	XP_016863693.1:p.Arg284His
XM_017008205.2:c.293G>A	XP_016863694.1:p.Arg98His
XM_024454048.1:c.1424G>A	XP_024309816.1:p.Arg475His
XM_024454049.1:c.1136G>A	XP_024309817.1:p.Arg379His