Canonical Allele Identifier: CA3026634
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102634797C>T , CM000666.2:g.102634797C>T GRCh38
NC_000004.11:g.103555954C>T , CM000666.1:g.103555954C>T GRCh37
NC_000004.10:g.103775002C>T NCBI36
NG_012804.1:g.131198G>A
NG_012804.2:g.131198G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2406G>A MANE Select NP_005899.3:p.Ala802=
ENST00000647097.2:c.2406G>A MANE Select ENSP00000495247.1:p.Ala802=
NM_005908.3:c.2406G>A NP_005899.3:p.Ala802=
ENST00000226578.8:c.2406G>A ENSP00000226578.4:p.Ala802=
ENST00000505239.1:c.2235G>A ENSP00000427322.1:p.Ala745=
ENST00000514430.5:n.6641G>A
ENST00000642252.1:c.2544G>A ENSP00000495483.1:p.Ala848=
ENST00000644159.1:c.2406G>A ENSP00000494462.1:p.Ala802=
ENST00000644545.1:c.*1046G>A ENSP00000493992.1:n.*1046G>A
ENST00000645348.1:c.*1428G>A ENSP00000495363.1:n.*1428G>A
ENST00000645558.1:c.2074G>A
ENST00000646311.1:c.*1526G>A ENSP00000493465.1:n.*1526G>A
ENST00000646727.1:c.*1260G>A ENSP00000493519.1:n.*1260G>A
ENST00000647129.1:c.2495G>A ENSP00000496137.1:n.2495G>A
XM_011531965.1:c.1500G>A XP_011530267.1:p.Ala500=
XM_011531966.1:c.1161G>A XP_011530268.1:p.Ala387=
XM_017008203.1:c.2043G>A XP_016863692.1:p.Ala681=
XM_017008204.2:c.1758G>A XP_016863693.1:p.Ala586=
XM_017008205.2:c.1200G>A XP_016863694.1:p.Ala400=
XM_024454048.1:c.2331G>A XP_024309816.1:p.Ala777=
XM_024454049.1:c.2043G>A XP_024309817.1:p.Ala681=