Canonical Allele Identifier: CA3026726
Community Standard Title: NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102635992C>T , CM000666.2:g.102635992C>T GRCh38
NC_000004.11:g.103557149C>T , CM000666.1:g.103557149C>T GRCh37
NC_000004.10:g.103776197C>T NCBI36
NG_012804.1:g.130003G>A
NG_012804.2:g.130003G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2030G>A MANE Select NP_005899.3:p.Trp677Ter
ENST00000647097.2:c.2030G>A MANE Select ENSP00000495247.1:p.Trp677Ter
NM_005908.3:c.2030G>A NP_005899.3:p.Trp677Ter
ENST00000226578.8:c.2030G>A ENSP00000226578.4:p.Trp677Ter
ENST00000505239.1:c.1859G>A ENSP00000427322.1:p.Trp620Ter
ENST00000508141.1:n.463G>A
ENST00000514430.5:n.6265G>A
ENST00000642252.1:c.2168G>A ENSP00000495483.1:p.Trp723Ter
ENST00000644159.1:c.2030G>A ENSP00000494462.1:p.Trp677Ter
ENST00000644545.1:c.*670G>A ENSP00000493992.1:n.*670G>A
ENST00000645348.1:c.*1052G>A ENSP00000495363.1:n.*1052G>A
ENST00000645558.1:c.1698G>A
ENST00000646311.1:c.*1150G>A ENSP00000493465.1:n.*1150G>A
ENST00000646727.1:c.*884G>A ENSP00000493519.1:n.*884G>A
ENST00000647129.1:c.2119G>A ENSP00000496137.1:n.2119G>A
XM_011531965.1:c.1124G>A XP_011530267.1:p.Trp375Ter
XM_011531966.1:c.785G>A XP_011530268.1:p.Trp262Ter
XM_017008203.1:c.1667G>A XP_016863692.1:p.Trp556Ter
XM_017008204.2:c.1382G>A XP_016863693.1:p.Trp461Ter
XM_017008205.2:c.824G>A XP_016863694.1:p.Trp275Ter
XM_024454048.1:c.1955G>A XP_024309816.1:p.Trp652Ter
XM_024454049.1:c.1667G>A XP_024309817.1:p.Trp556Ter