Canonical Allele Identifier: CA440807799

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635043C>T , CM000666.2:g.102635043C>T	GRCh38
NC_000004.11:g.103556200C>T , CM000666.1:g.103556200C>T	GRCh37
NC_000004.10:g.103775248C>T	NCBI36
NG_012804.1:g.130952G>A
NG_012804.2:g.130952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.2298G>A	ENSP00000495483.1:p.Val766=
ENST00000644159.1:c.2160G>A	ENSP00000494462.1:p.Val720=
ENST00000644545.1:c.*800G>A	ENSP00000493992.1:n.*800G>A
ENST00000645348.1:c.*1182G>A	ENSP00000495363.1:n.*1182G>A
ENST00000645558.1:c.1828G>A
ENST00000646311.1:c.*1280G>A	ENSP00000493465.1:n.*1280G>A
ENST00000646727.1:c.*1014G>A	ENSP00000493519.1:n.*1014G>A
ENST00000647097.2:c.2160G>A MANE Select	ENSP00000495247.1:p.Val720=
ENST00000647129.1:c.2249G>A	ENSP00000496137.1:n.2249G>A
ENST00000226578.8:c.2160G>A	ENSP00000226578.4:p.Val720=
ENST00000505239.1:c.1989G>A	ENSP00000427322.1:p.Val663=
ENST00000514430.5:n.6395G>A
NM_005908.3:c.2160G>A	NP_005899.3:p.Val720=
XM_011531965.1:c.1254G>A	XP_011530267.1:p.Val418=
XM_011531966.1:c.915G>A	XP_011530268.1:p.Val305=
XM_017008203.1:c.1797G>A	XP_016863692.1:p.Val599=
XM_017008204.2:c.1512G>A	XP_016863693.1:p.Val504=
XM_017008205.2:c.954G>A	XP_016863694.1:p.Val318=
XM_024454048.1:c.2085G>A	XP_024309816.1:p.Val695=
XM_024454049.1:c.1797G>A	XP_024309817.1:p.Val599=
NM_005908.4:c.2160G>A MANE Select	NP_005899.3:p.Val720=