Canonical Allele Identifier: CA3026990

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102671349G>A , CM000666.2:g.102671349G>A	GRCh38
NC_000004.11:g.103592506G>A , CM000666.1:g.103592506G>A	GRCh37
NC_000004.10:g.103811554G>A	NCBI36
NG_012804.1:g.94646C>T
NG_012804.2:g.94646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1162C>T MANE Select	NP_005899.3:p.Arg388Trp
ENST00000647097.2:c.1162C>T MANE Select	ENSP00000495247.1:p.Arg388Trp
NM_005908.3:c.1162C>T	NP_005899.3:p.Arg388Trp
ENST00000226578.8:c.1162C>T	ENSP00000226578.4:p.Arg388Trp
ENST00000505239.1:c.991C>T	ENSP00000427322.1:p.Arg331Trp
ENST00000514430.5:n.1287C>T
ENST00000642252.1:c.1300C>T	ENSP00000495483.1:p.Arg434Trp
ENST00000644159.1:c.1162C>T	ENSP00000494462.1:p.Arg388Trp
ENST00000644545.1:c.1162C>T	ENSP00000493992.1:p.Arg388Trp
ENST00000645348.1:c.*14C>T	ENSP00000495363.1:n.*14C>T
ENST00000645558.1:c.830C>T
ENST00000646311.1:c.*282C>T	ENSP00000493465.1:n.*282C>T
ENST00000646727.1:c.1162C>T	ENSP00000493519.1:p.Arg388Trp
ENST00000647129.1:c.943C>T	ENSP00000496137.1:n.943C>T
XM_011531965.1:c.256C>T	XP_011530267.1:p.Arg86Trp
XM_017008203.1:c.799C>T	XP_016863692.1:p.Arg267Trp
XM_017008204.2:c.514C>T	XP_016863693.1:p.Arg172Trp
XM_024454048.1:c.1087C>T	XP_024309816.1:p.Arg363Trp
XM_024454049.1:c.799C>T	XP_024309817.1:p.Arg267Trp