Canonical Allele Identifier: CA357757081

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635042T>A , CM000666.2:g.102635042T>A	GRCh38
NC_000004.11:g.103556199T>A , CM000666.1:g.103556199T>A	GRCh37
NC_000004.10:g.103775247T>A	NCBI36
NG_012804.1:g.130953A>T
NG_012804.2:g.130953A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2161A>T MANE Select	NP_005899.3:p.Arg721Ter
ENST00000647097.2:c.2161A>T MANE Select	ENSP00000495247.1:p.Arg721Ter
NM_005908.3:c.2161A>T	NP_005899.3:p.Arg721Ter
ENST00000226578.8:c.2161A>T	ENSP00000226578.4:p.Arg721Ter
ENST00000505239.1:c.1990A>T	ENSP00000427322.1:p.Arg664Ter
ENST00000514430.5:n.6396A>T
ENST00000642252.1:c.2299A>T	ENSP00000495483.1:p.Arg767Ter
ENST00000644159.1:c.2161A>T	ENSP00000494462.1:p.Arg721Ter
ENST00000644545.1:c.*801A>T	ENSP00000493992.1:n.*801A>T
ENST00000645348.1:c.*1183A>T	ENSP00000495363.1:n.*1183A>T
ENST00000645558.1:c.1829A>T
ENST00000646311.1:c.*1281A>T	ENSP00000493465.1:n.*1281A>T
ENST00000646727.1:c.*1015A>T	ENSP00000493519.1:n.*1015A>T
ENST00000647129.1:c.2250A>T	ENSP00000496137.1:n.2250A>T
XM_011531965.1:c.1255A>T	XP_011530267.1:p.Arg419Ter
XM_011531966.1:c.916A>T	XP_011530268.1:p.Arg306Ter
XM_017008203.1:c.1798A>T	XP_016863692.1:p.Arg600Ter
XM_017008204.2:c.1513A>T	XP_016863693.1:p.Arg505Ter
XM_017008205.2:c.955A>T	XP_016863694.1:p.Arg319Ter
XM_024454048.1:c.2086A>T	XP_024309816.1:p.Arg696Ter
XM_024454049.1:c.1798A>T	XP_024309817.1:p.Arg600Ter