Canonical Allele Identifier: CA357756910

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634959G>T , CM000666.2:g.102634959G>T	GRCh38
NC_000004.11:g.103556116G>T , CM000666.1:g.103556116G>T	GRCh37
NC_000004.10:g.103775164G>T	NCBI36
NG_012804.1:g.131036C>A
NG_012804.2:g.131036C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2244C>A MANE Select	NP_005899.3:p.Cys748Ter
ENST00000647097.2:c.2244C>A MANE Select	ENSP00000495247.1:p.Cys748Ter
NM_005908.3:c.2244C>A	NP_005899.3:p.Cys748Ter
ENST00000226578.8:c.2244C>A	ENSP00000226578.4:p.Cys748Ter
ENST00000505239.1:c.2073C>A	ENSP00000427322.1:p.Cys691Ter
ENST00000514430.5:n.6479C>A
ENST00000642252.1:c.2382C>A	ENSP00000495483.1:p.Cys794Ter
ENST00000644159.1:c.2244C>A	ENSP00000494462.1:p.Cys748Ter
ENST00000644545.1:c.*884C>A	ENSP00000493992.1:n.*884C>A
ENST00000645348.1:c.*1266C>A	ENSP00000495363.1:n.*1266C>A
ENST00000645558.1:c.1912C>A
ENST00000646311.1:c.*1364C>A	ENSP00000493465.1:n.*1364C>A
ENST00000646727.1:c.*1098C>A	ENSP00000493519.1:n.*1098C>A
ENST00000647129.1:c.2333C>A	ENSP00000496137.1:n.2333C>A
XM_011531965.1:c.1338C>A	XP_011530267.1:p.Cys446Ter
XM_011531966.1:c.999C>A	XP_011530268.1:p.Cys333Ter
XM_017008203.1:c.1881C>A	XP_016863692.1:p.Cys627Ter
XM_017008204.2:c.1596C>A	XP_016863693.1:p.Cys532Ter
XM_017008205.2:c.1038C>A	XP_016863694.1:p.Cys346Ter
XM_024454048.1:c.2169C>A	XP_024309816.1:p.Cys723Ter
XM_024454049.1:c.1881C>A	XP_024309817.1:p.Cys627Ter