Canonical Allele Identifier: CA246709

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102690737C>T , CM000666.2:g.102690737C>T	GRCh38
NC_000004.11:g.103611894C>T , CM000666.1:g.103611894C>T	GRCh37
NC_000004.10:g.103830942C>T	NCBI36
NG_012804.1:g.75258G>A
NG_012804.2:g.75258G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.708G>A MANE Select	NP_005899.3:p.Glu236=
ENST00000647097.2:c.708G>A MANE Select	ENSP00000495247.1:p.Glu236=
NM_005908.3:c.708G>A	NP_005899.3:p.Glu236=
ENST00000226578.8:c.708G>A	ENSP00000226578.4:p.Glu236=
ENST00000505239.1:c.537G>A	ENSP00000427322.1:p.Glu179=
ENST00000514430.5:n.833G>A
ENST00000642252.1:c.708G>A	ENSP00000495483.1:p.Glu236=
ENST00000644159.1:c.708G>A	ENSP00000494462.1:p.Glu236=
ENST00000644545.1:c.708G>A	ENSP00000493992.1:p.Glu236=
ENST00000645348.1:c.708G>A	ENSP00000495363.1:p.Glu236=
ENST00000645558.1:c.214G>A
ENST00000646311.1:c.708G>A	ENSP00000493465.1:p.Glu236=
ENST00000646727.1:c.708G>A	ENSP00000493519.1:p.Glu236=
ENST00000647129.1:c.390G>A	ENSP00000496137.1:p.Glu130=
XM_011531965.1:c.-199G>A	XP_011530267.1:n.-199G>A
XM_017008203.1:c.345G>A	XP_016863692.1:p.Glu115=
XM_017008204.2:c.60G>A	XP_016863693.1:p.Glu20=
XM_024454048.1:c.633G>A	XP_024309816.1:p.Glu211=
XM_024454049.1:c.345G>A	XP_024309817.1:p.Glu115=