Canonical Allele Identifier: CA3026678

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635029dup , CM000666.2:g.102635029dup	GRCh38
NC_000004.11:g.103556186dup , CM000666.1:g.103556186dup	GRCh37
NC_000004.10:g.103775234dup	NCBI36
NG_012804.1:g.130967dup
NG_012804.2:g.130967dup

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2175dup MANE Select	NP_005899.3:p.Ser726GlufsTer12
ENST00000647097.2:c.2175dup MANE Select	ENSP00000495247.1:p.Ser726GlufsTer12
NM_005908.3:c.2175dup	NP_005899.3:p.Ser726GlufsTer12
ENST00000226578.8:c.2175dup	ENSP00000226578.4:p.Ser726GlufsTer12
ENST00000505239.1:c.2004dup	ENSP00000427322.1:p.Ser669GlufsTer12
ENST00000514430.5:n.6410dup
ENST00000642252.1:c.2313dup	ENSP00000495483.1:p.Ser772GlufsTer12
ENST00000644159.1:c.2175dup	ENSP00000494462.1:p.Ser726GlufsTer12
ENST00000644545.1:c.*815dup	ENSP00000493992.1:n.*815dup
ENST00000645348.1:c.*1197dup	ENSP00000495363.1:n.*1197dup
ENST00000645558.1:c.1843dup
ENST00000646311.1:c.*1295dup	ENSP00000493465.1:n.*1295dup
ENST00000646727.1:c.*1029dup	ENSP00000493519.1:n.*1029dup
ENST00000647129.1:c.2264dup	ENSP00000496137.1:n.2264dup
XM_011531965.1:c.1269dup	XP_011530267.1:p.Ser424GlufsTer12
XM_011531966.1:c.930dup	XP_011530268.1:p.Ser311GlufsTer12
XM_017008203.1:c.1812dup	XP_016863692.1:p.Ser605GlufsTer12
XM_017008204.2:c.1527dup	XP_016863693.1:p.Ser510GlufsTer12
XM_017008205.2:c.969dup	XP_016863694.1:p.Ser324GlufsTer12
XM_024454048.1:c.2100dup	XP_024309816.1:p.Ser701GlufsTer12
XM_024454049.1:c.1812dup	XP_024309817.1:p.Ser605GlufsTer12