Canonical Allele Identifier: CA102690090

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657738G>A , CM000666.2:g.102657738G>A	GRCh38
NC_000004.11:g.103578895G>A , CM000666.1:g.103578895G>A	GRCh37
NC_000004.10:g.103797943G>A	NCBI36
NG_012804.1:g.108257C>T
NG_012804.2:g.108257C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1648C>T MANE Select	NP_005899.3:p.Arg550Ter
ENST00000647097.2:c.1648C>T MANE Select	ENSP00000495247.1:p.Arg550Ter
NM_005908.3:c.1648C>T	NP_005899.3:p.Arg550Ter
ENST00000226578.8:c.1648C>T	ENSP00000226578.4:p.Arg550Ter
ENST00000505239.1:c.1477C>T	ENSP00000427322.1:p.Arg493Ter
ENST00000514430.5:n.5883C>T
ENST00000642252.1:c.1786C>T	ENSP00000495483.1:p.Arg596Ter
ENST00000644159.1:c.1648C>T	ENSP00000494462.1:p.Arg550Ter
ENST00000644545.1:c.*288C>T	ENSP00000493992.1:n.*288C>T
ENST00000645348.1:c.*670C>T	ENSP00000495363.1:n.*670C>T
ENST00000645558.1:c.1316C>T
ENST00000646311.1:c.*768C>T	ENSP00000493465.1:n.*768C>T
ENST00000646727.1:c.*502C>T	ENSP00000493519.1:n.*502C>T
ENST00000647129.1:c.1737C>T	ENSP00000496137.1:n.1737C>T
XM_011531965.1:c.742C>T	XP_011530267.1:p.Arg248Ter
XM_011531966.1:c.403C>T	XP_011530268.1:p.Arg135Ter
XM_017008203.1:c.1285C>T	XP_016863692.1:p.Arg429Ter
XM_017008204.2:c.1000C>T	XP_016863693.1:p.Arg334Ter
XM_017008205.2:c.442C>T	XP_016863694.1:p.Arg148Ter
XM_024454048.1:c.1573C>T	XP_024309816.1:p.Arg525Ter
XM_024454049.1:c.1285C>T	XP_024309817.1:p.Arg429Ter