Canonical Allele Identifier: CA3026666
Community Standard Title: NM_005908.4(MANBA):c.2229A>T (p.Gly743=)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102634974T>A , CM000666.2:g.102634974T>A GRCh38
NC_000004.11:g.103556131T>A , CM000666.1:g.103556131T>A GRCh37
NC_000004.10:g.103775179T>A NCBI36
NG_012804.1:g.131021A>T
NG_012804.2:g.131021A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2229A>T MANE Select NP_005899.3:p.Gly743=
ENST00000647097.2:c.2229A>T MANE Select ENSP00000495247.1:p.Gly743=
NM_005908.3:c.2229A>T NP_005899.3:p.Gly743=
ENST00000226578.8:c.2229A>T ENSP00000226578.4:p.Gly743=
ENST00000505239.1:c.2058A>T ENSP00000427322.1:p.Gly686=
ENST00000514430.5:n.6464A>T
ENST00000642252.1:c.2367A>T ENSP00000495483.1:p.Gly789=
ENST00000644159.1:c.2229A>T ENSP00000494462.1:p.Gly743=
ENST00000644545.1:c.*869A>T ENSP00000493992.1:n.*869A>T
ENST00000645348.1:c.*1251A>T ENSP00000495363.1:n.*1251A>T
ENST00000645558.1:c.1897A>T
ENST00000646311.1:c.*1349A>T ENSP00000493465.1:n.*1349A>T
ENST00000646727.1:c.*1083A>T ENSP00000493519.1:n.*1083A>T
ENST00000647129.1:c.2318A>T ENSP00000496137.1:n.2318A>T
XM_011531965.1:c.1323A>T XP_011530267.1:p.Gly441=
XM_011531966.1:c.984A>T XP_011530268.1:p.Gly328=
XM_017008203.1:c.1866A>T XP_016863692.1:p.Gly622=
XM_017008204.2:c.1581A>T XP_016863693.1:p.Gly527=
XM_017008205.2:c.1023A>T XP_016863694.1:p.Gly341=
XM_024454048.1:c.2154A>T XP_024309816.1:p.Gly718=
XM_024454049.1:c.1866A>T XP_024309817.1:p.Gly622=