Canonical Allele Identifier: CA103130105

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102723920G>T , CM000666.2:g.102723920G>T	GRCh38
NC_000004.11:g.103645077G>T , CM000666.1:g.103645077G>T	GRCh37
NC_000004.10:g.103864123G>T	NCBI36
NG_012804.1:g.42075C>A
NG_012804.2:g.42075C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.320C>A MANE Select	NP_005899.3:p.Ser107Ter
ENST00000647097.2:c.320C>A MANE Select	ENSP00000495247.1:p.Ser107Ter
NM_005908.3:c.320C>A	NP_005899.3:p.Ser107Ter
ENST00000226578.8:c.320C>A	ENSP00000226578.4:p.Ser107Ter
ENST00000505239.1:c.320C>A	ENSP00000427322.1:p.Ser107Ter
ENST00000511813.1:c.*286C>A	ENSP00000422001.1:n.*286C>A
ENST00000514430.5:n.367C>A
ENST00000642252.1:c.320C>A	ENSP00000495483.1:p.Ser107Ter
ENST00000644159.1:c.320C>A	ENSP00000494462.1:p.Ser107Ter
ENST00000644545.1:c.320C>A	ENSP00000493992.1:p.Ser107Ter
ENST00000644965.1:c.*225C>A	ENSP00000495818.1:n.*225C>A
ENST00000645348.1:c.320C>A	ENSP00000495363.1:p.Ser107Ter
ENST00000646311.1:c.320C>A	ENSP00000493465.1:p.Ser107Ter
ENST00000646451.1:c.245C>A	ENSP00000495846.1:p.Ser82Ter
ENST00000646727.1:c.320C>A	ENSP00000493519.1:p.Ser107Ter
ENST00000647129.1:c.2C>A	ENSP00000496137.1:p.Ser1Ter
XM_017008203.1:c.-44C>A	XP_016863692.1:n.-44C>A
XM_017008204.2:c.-205C>A	XP_016863693.1:n.-205C>A
XM_024454048.1:c.245C>A	XP_024309816.1:p.Ser82Ter
XM_024454049.1:c.-44C>A	XP_024309817.1:n.-44C>A