Canonical Allele Identifier: CA357958432
Community Standard Title: NM_005908.4(MANBA):c.278G>A (p.Trp93Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102723962C>T , CM000666.2:g.102723962C>T GRCh38
NC_000004.11:g.103645119C>T , CM000666.1:g.103645119C>T GRCh37
NC_000004.10:g.103864165C>T NCBI36
NG_012804.1:g.42033G>A
NG_012804.2:g.42033G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.278G>A MANE Select NP_005899.3:p.Trp93Ter
ENST00000647097.2:c.278G>A MANE Select ENSP00000495247.1:p.Trp93Ter
NM_005908.3:c.278G>A NP_005899.3:p.Trp93Ter
ENST00000226578.8:c.278G>A ENSP00000226578.4:p.Trp93Ter
ENST00000505239.1:c.278G>A ENSP00000427322.1:p.Trp93Ter
ENST00000511813.1:c.*244G>A ENSP00000422001.1:n.*244G>A
ENST00000514430.5:n.325G>A
ENST00000642252.1:c.278G>A ENSP00000495483.1:p.Trp93Ter
ENST00000644159.1:c.278G>A ENSP00000494462.1:p.Trp93Ter
ENST00000644545.1:c.278G>A ENSP00000493992.1:p.Trp93Ter
ENST00000644965.1:c.*183G>A ENSP00000495818.1:n.*183G>A
ENST00000645348.1:c.278G>A ENSP00000495363.1:p.Trp93Ter
ENST00000646311.1:c.278G>A ENSP00000493465.1:p.Trp93Ter
ENST00000646451.1:c.203G>A ENSP00000495846.1:p.Trp68Ter
ENST00000646727.1:c.278G>A ENSP00000493519.1:p.Trp93Ter
XM_017008203.1:c.-86G>A XP_016863692.1:n.-86G>A
XM_017008204.2:c.-247G>A XP_016863693.1:n.-247G>A
XM_024454048.1:c.203G>A XP_024309816.1:p.Trp68Ter
XM_024454049.1:c.-86G>A XP_024309817.1:n.-86G>A