Canonical Allele Identifier: CA357758809

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657805A>T , CM000666.2:g.102657805A>T	GRCh38
NC_000004.11:g.103578962A>T , CM000666.1:g.103578962A>T	GRCh37
NC_000004.10:g.103798010A>T	NCBI36
NG_012804.1:g.108190T>A
NG_012804.2:g.108190T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1581T>A MANE Select	NP_005899.3:p.Tyr527Ter
ENST00000647097.2:c.1581T>A MANE Select	ENSP00000495247.1:p.Tyr527Ter
NM_005908.3:c.1581T>A	NP_005899.3:p.Tyr527Ter
ENST00000226578.8:c.1581T>A	ENSP00000226578.4:p.Tyr527Ter
ENST00000505239.1:c.1410T>A	ENSP00000427322.1:p.Tyr470Ter
ENST00000514430.5:n.5816T>A
ENST00000642252.1:c.1719T>A	ENSP00000495483.1:p.Tyr573Ter
ENST00000644159.1:c.1581T>A	ENSP00000494462.1:p.Tyr527Ter
ENST00000644545.1:c.*221T>A	ENSP00000493992.1:n.*221T>A
ENST00000645348.1:c.*603T>A	ENSP00000495363.1:n.*603T>A
ENST00000645558.1:c.1249T>A
ENST00000646311.1:c.*701T>A	ENSP00000493465.1:n.*701T>A
ENST00000646727.1:c.*435T>A	ENSP00000493519.1:n.*435T>A
ENST00000647129.1:c.1670T>A	ENSP00000496137.1:n.1670T>A
XM_011531965.1:c.675T>A	XP_011530267.1:p.Tyr225Ter
XM_011531966.1:c.336T>A	XP_011530268.1:p.Tyr112Ter
XM_017008203.1:c.1218T>A	XP_016863692.1:p.Tyr406Ter
XM_017008204.2:c.933T>A	XP_016863693.1:p.Tyr311Ter
XM_017008205.2:c.375T>A	XP_016863694.1:p.Tyr125Ter
XM_024454048.1:c.1506T>A	XP_024309816.1:p.Tyr502Ter
XM_024454049.1:c.1218T>A	XP_024309817.1:p.Tyr406Ter