Canonical Allele Identifier: CA357764117

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102671342C>T , CM000666.2:g.102671342C>T	GRCh38
NC_000004.11:g.103592499C>T , CM000666.1:g.103592499C>T	GRCh37
NC_000004.10:g.103811547C>T	NCBI36
NG_012804.1:g.94653G>A
NG_012804.2:g.94653G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1169G>A MANE Select	NP_005899.3:p.Trp390Ter
ENST00000647097.2:c.1169G>A MANE Select	ENSP00000495247.1:p.Trp390Ter
NM_005908.3:c.1169G>A	NP_005899.3:p.Trp390Ter
ENST00000226578.8:c.1169G>A	ENSP00000226578.4:p.Trp390Ter
ENST00000505239.1:c.998G>A	ENSP00000427322.1:p.Trp333Ter
ENST00000514430.5:n.1294G>A
ENST00000642252.1:c.1307G>A	ENSP00000495483.1:p.Trp436Ter
ENST00000644159.1:c.1169G>A	ENSP00000494462.1:p.Trp390Ter
ENST00000644545.1:c.1169G>A	ENSP00000493992.1:p.Trp390Ter
ENST00000645348.1:c.*21G>A	ENSP00000495363.1:n.*21G>A
ENST00000645558.1:c.837G>A
ENST00000646311.1:c.*289G>A	ENSP00000493465.1:n.*289G>A
ENST00000646727.1:c.1169G>A	ENSP00000493519.1:p.Trp390Ter
ENST00000647129.1:c.950G>A	ENSP00000496137.1:n.950G>A
XM_011531965.1:c.263G>A	XP_011530267.1:p.Trp88Ter
XM_017008203.1:c.806G>A	XP_016863692.1:p.Trp269Ter
XM_017008204.2:c.521G>A	XP_016863693.1:p.Trp174Ter
XM_024454048.1:c.1094G>A	XP_024309816.1:p.Trp365Ter
XM_024454049.1:c.806G>A	XP_024309817.1:p.Trp269Ter