Canonical Allele Identifier: CA440535166

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102650660T>A , CM000666.2:g.102650660T>A	GRCh38
NC_000004.11:g.103571817T>A , CM000666.1:g.103571817T>A	GRCh37
NC_000004.10:g.103790865T>A	NCBI36
NG_012804.1:g.115335A>T
NG_012804.2:g.115335A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1746A>T MANE Select	NP_005899.3:p.Ser582=
ENST00000647097.2:c.1746A>T MANE Select	ENSP00000495247.1:p.Ser582=
NM_005908.3:c.1746A>T	NP_005899.3:p.Ser582=
ENST00000226578.8:c.1746A>T	ENSP00000226578.4:p.Ser582=
ENST00000505239.1:c.1575A>T	ENSP00000427322.1:p.Ser525=
ENST00000508141.1:n.179A>T
ENST00000514430.5:n.5981A>T
ENST00000642252.1:c.1884A>T	ENSP00000495483.1:p.Ser628=
ENST00000644159.1:c.1746A>T	ENSP00000494462.1:p.Ser582=
ENST00000644545.1:c.*386A>T	ENSP00000493992.1:n.*386A>T
ENST00000645348.1:c.*768A>T	ENSP00000495363.1:n.*768A>T
ENST00000645558.1:c.1414A>T
ENST00000646311.1:c.*866A>T	ENSP00000493465.1:n.*866A>T
ENST00000646727.1:c.*600A>T	ENSP00000493519.1:n.*600A>T
ENST00000647129.1:c.1835A>T	ENSP00000496137.1:n.1835A>T
XM_011531965.1:c.840A>T	XP_011530267.1:p.Ser280=
XM_011531966.1:c.501A>T	XP_011530268.1:p.Ser167=
XM_017008203.1:c.1383A>T	XP_016863692.1:p.Ser461=
XM_017008204.2:c.1098A>T	XP_016863693.1:p.Ser366=
XM_017008205.2:c.540A>T	XP_016863694.1:p.Ser180=
XM_024454048.1:c.1671A>T	XP_024309816.1:p.Ser557=
XM_024454049.1:c.1383A>T	XP_024309817.1:p.Ser461=