Canonical Allele Identifier: CA3027196

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102722876G>A , CM000666.2:g.102722876G>A	GRCh38
NC_000004.11:g.103644033G>A , CM000666.1:g.103644033G>A	GRCh37
NC_000004.10:g.103863079G>A	NCBI36
NG_012804.1:g.43119C>T
NG_012804.2:g.43119C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.544C>T MANE Select	NP_005899.3:p.Arg182Trp
ENST00000647097.2:c.544C>T MANE Select	ENSP00000495247.1:p.Arg182Trp
NM_005908.3:c.544C>T	NP_005899.3:p.Arg182Trp
ENST00000226578.8:c.544C>T	ENSP00000226578.4:p.Arg182Trp
ENST00000505239.1:c.378+986C>T	ENSP00000427322.1:n.378+986C>T
ENST00000506478.1:n.189C>T
ENST00000514430.5:n.591C>T
ENST00000642252.1:c.544C>T	ENSP00000495483.1:p.Arg182Trp
ENST00000644159.1:c.544C>T	ENSP00000494462.1:p.Arg182Trp
ENST00000644545.1:c.544C>T	ENSP00000493992.1:p.Arg182Trp
ENST00000645348.1:c.544C>T	ENSP00000495363.1:p.Arg182Trp
ENST00000645558.1:c.50C>T
ENST00000646311.1:c.544C>T	ENSP00000493465.1:p.Arg182Trp
ENST00000646451.1:c.469C>T	ENSP00000495846.1:p.Arg157Trp
ENST00000646727.1:c.544C>T	ENSP00000493519.1:p.Arg182Trp
ENST00000647129.1:c.226C>T	ENSP00000496137.1:p.Arg76Trp
XM_017008203.1:c.181C>T	XP_016863692.1:p.Arg61Trp
XM_017008204.2:c.20C>T	XP_016863693.1:p.Ser7Leu
XM_024454048.1:c.469C>T	XP_024309816.1:p.Arg157Trp
XM_024454049.1:c.181C>T	XP_024309817.1:p.Arg61Trp