Canonical Allele Identifier: CA3027073
Community Standard Title: NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102689661C>T , CM000666.2:g.102689661C>T GRCh38
NC_000004.11:g.103610818C>T , CM000666.1:g.103610818C>T GRCh37
NC_000004.10:g.103829866C>T NCBI36
NG_012804.1:g.76334G>A
NG_012804.2:g.76334G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.873G>A MANE Select NP_005899.3:p.Trp291Ter
ENST00000647097.2:c.873G>A MANE Select ENSP00000495247.1:p.Trp291Ter
NM_005908.3:c.873G>A NP_005899.3:p.Trp291Ter
ENST00000226578.8:c.873G>A ENSP00000226578.4:p.Trp291Ter
ENST00000505239.1:c.702G>A ENSP00000427322.1:p.Trp234Ter
ENST00000514430.5:n.998G>A
ENST00000642252.1:c.873G>A ENSP00000495483.1:p.Trp291Ter
ENST00000644159.1:c.873G>A ENSP00000494462.1:p.Trp291Ter
ENST00000644545.1:c.873G>A ENSP00000493992.1:p.Trp291Ter
ENST00000645348.1:c.873G>A ENSP00000495363.1:p.Trp291Ter
ENST00000645558.1:c.379G>A
ENST00000646311.1:c.873G>A ENSP00000493465.1:p.Trp291Ter
ENST00000646727.1:c.873G>A ENSP00000493519.1:p.Trp291Ter
ENST00000647129.1:c.555G>A ENSP00000496137.1:p.Trp185Ter
XM_011531965.1:c.-34G>A XP_011530267.1:n.-34G>A
XM_017008203.1:c.510G>A XP_016863692.1:p.Trp170Ter
XM_017008204.2:c.225G>A XP_016863693.1:p.Trp75Ter
XM_024454048.1:c.798G>A XP_024309816.1:p.Trp266Ter
XM_024454049.1:c.510G>A XP_024309817.1:p.Trp170Ter