Canonical Allele Identifier: CA357761073

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102664772C>T , CM000666.2:g.102664772C>T	GRCh38
NC_000004.11:g.103585929C>T , CM000666.1:g.103585929C>T	GRCh37
NC_000004.10:g.103804977C>T	NCBI36
NG_012804.1:g.101223G>A
NG_012804.2:g.101223G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1398G>A MANE Select	NP_005899.3:p.Trp466Ter
ENST00000647097.2:c.1398G>A MANE Select	ENSP00000495247.1:p.Trp466Ter
NM_005908.3:c.1398G>A	NP_005899.3:p.Trp466Ter
ENST00000226578.8:c.1398G>A	ENSP00000226578.4:p.Trp466Ter
ENST00000505239.1:c.1227G>A	ENSP00000427322.1:p.Trp409Ter
ENST00000514430.5:n.5633G>A
ENST00000642252.1:c.1536G>A	ENSP00000495483.1:p.Trp512Ter
ENST00000644159.1:c.1398G>A	ENSP00000494462.1:p.Trp466Ter
ENST00000644545.1:c.1398G>A	ENSP00000493992.1:p.Trp466Ter
ENST00000645348.1:c.*250G>A	ENSP00000495363.1:n.*250G>A
ENST00000645558.1:c.1066G>A
ENST00000646311.1:c.*518G>A	ENSP00000493465.1:n.*518G>A
ENST00000646727.1:c.*252G>A	ENSP00000493519.1:n.*252G>A
ENST00000647129.1:c.1487G>A	ENSP00000496137.1:n.1487G>A
XM_011531965.1:c.492G>A	XP_011530267.1:p.Trp164Ter
XM_011531966.1:c.153G>A	XP_011530268.1:p.Trp51Ter
XM_017008203.1:c.1035G>A	XP_016863692.1:p.Trp345Ter
XM_017008204.2:c.750G>A	XP_016863693.1:p.Trp250Ter
XM_017008205.2:c.192G>A	XP_016863694.1:p.Trp64Ter
XM_024454048.1:c.1323G>A	XP_024309816.1:p.Trp441Ter
XM_024454049.1:c.1035G>A	XP_024309817.1:p.Trp345Ter