Canonical Allele Identifier: CA10617658
Community Standard Title: NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102639774C>T , CM000666.2:g.102639774C>T GRCh38
NC_000004.11:g.103560931C>T , CM000666.1:g.103560931C>T GRCh37
NC_000004.10:g.103779979C>T NCBI36
NG_012804.1:g.126221G>A
NG_012804.2:g.126221G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.1953G>A MANE Select NP_005899.3:p.Thr651=
ENST00000647097.2:c.1953G>A MANE Select ENSP00000495247.1:p.Thr651=
NM_005908.3:c.1953G>A NP_005899.3:p.Thr651=
ENST00000226578.8:c.1953G>A ENSP00000226578.4:p.Thr651=
ENST00000505239.1:c.1782G>A ENSP00000427322.1:p.Thr594=
ENST00000508141.1:n.386G>A
ENST00000514430.5:n.6188G>A
ENST00000642252.1:c.2091G>A ENSP00000495483.1:p.Thr697=
ENST00000644159.1:c.1953G>A ENSP00000494462.1:p.Thr651=
ENST00000644545.1:c.*593G>A ENSP00000493992.1:n.*593G>A
ENST00000645348.1:c.*975G>A ENSP00000495363.1:n.*975G>A
ENST00000645558.1:c.1621G>A
ENST00000646311.1:c.*1073G>A ENSP00000493465.1:n.*1073G>A
ENST00000646727.1:c.*807G>A ENSP00000493519.1:n.*807G>A
ENST00000647129.1:c.2042G>A ENSP00000496137.1:n.2042G>A
XM_011531965.1:c.1047G>A XP_011530267.1:p.Thr349=
XM_011531966.1:c.708G>A XP_011530268.1:p.Thr236=
XM_017008203.1:c.1590G>A XP_016863692.1:p.Thr530=
XM_017008204.2:c.1305G>A XP_016863693.1:p.Thr435=
XM_017008205.2:c.747G>A XP_016863694.1:p.Thr249=
XM_024454048.1:c.1878G>A XP_024309816.1:p.Thr626=
XM_024454049.1:c.1590G>A XP_024309817.1:p.Thr530=