Canonical Allele Identifier: CA357769290
Community Standard Title: NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102690664G>A , CM000666.2:g.102690664G>A GRCh38
NC_000004.11:g.103611821G>A , CM000666.1:g.103611821G>A GRCh37
NC_000004.10:g.103830869G>A NCBI36
NG_012804.1:g.75331C>T
NG_012804.2:g.75331C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.781C>T MANE Select NP_005899.3:p.Gln261Ter
ENST00000647097.2:c.781C>T MANE Select ENSP00000495247.1:p.Gln261Ter
NM_005908.3:c.781C>T NP_005899.3:p.Gln261Ter
ENST00000226578.8:c.781C>T ENSP00000226578.4:p.Gln261Ter
ENST00000505239.1:c.610C>T ENSP00000427322.1:p.Gln204Ter
ENST00000514430.5:n.906C>T
ENST00000642252.1:c.781C>T ENSP00000495483.1:p.Gln261Ter
ENST00000644159.1:c.781C>T ENSP00000494462.1:p.Gln261Ter
ENST00000644545.1:c.781C>T ENSP00000493992.1:p.Gln261Ter
ENST00000645348.1:c.781C>T ENSP00000495363.1:p.Gln261Ter
ENST00000645558.1:c.287C>T
ENST00000646311.1:c.781C>T ENSP00000493465.1:p.Gln261Ter
ENST00000646727.1:c.781C>T ENSP00000493519.1:p.Gln261Ter
ENST00000647129.1:c.463C>T ENSP00000496137.1:p.Gln155Ter
XM_011531965.1:c.-126C>T XP_011530267.1:n.-126C>T
XM_017008203.1:c.418C>T XP_016863692.1:p.Gln140Ter
XM_017008204.2:c.133C>T XP_016863693.1:p.Gln45Ter
XM_024454048.1:c.706C>T XP_024309816.1:p.Gln236Ter
XM_024454049.1:c.418C>T XP_024309817.1:p.Gln140Ter