Canonical Allele Identifier: CA357758905

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657825G>A , CM000666.2:g.102657825G>A	GRCh38
NC_000004.11:g.103578982G>A , CM000666.1:g.103578982G>A	GRCh37
NC_000004.10:g.103798030G>A	NCBI36
NG_012804.1:g.108170C>T
NG_012804.2:g.108170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1561C>T MANE Select	NP_005899.3:p.Gln521Ter
ENST00000647097.2:c.1561C>T MANE Select	ENSP00000495247.1:p.Gln521Ter
NM_005908.3:c.1561C>T	NP_005899.3:p.Gln521Ter
ENST00000226578.8:c.1561C>T	ENSP00000226578.4:p.Gln521Ter
ENST00000505239.1:c.1390C>T	ENSP00000427322.1:p.Gln464Ter
ENST00000514430.5:n.5796C>T
ENST00000642252.1:c.1699C>T	ENSP00000495483.1:p.Gln567Ter
ENST00000644159.1:c.1561C>T	ENSP00000494462.1:p.Gln521Ter
ENST00000644545.1:c.*201C>T	ENSP00000493992.1:n.*201C>T
ENST00000645348.1:c.*583C>T	ENSP00000495363.1:n.*583C>T
ENST00000645558.1:c.1229C>T
ENST00000646311.1:c.*681C>T	ENSP00000493465.1:n.*681C>T
ENST00000646727.1:c.*415C>T	ENSP00000493519.1:n.*415C>T
ENST00000647129.1:c.1650C>T	ENSP00000496137.1:n.1650C>T
XM_011531965.1:c.655C>T	XP_011530267.1:p.Gln219Ter
XM_011531966.1:c.316C>T	XP_011530268.1:p.Gln106Ter
XM_017008203.1:c.1198C>T	XP_016863692.1:p.Gln400Ter
XM_017008204.2:c.913C>T	XP_016863693.1:p.Gln305Ter
XM_017008205.2:c.355C>T	XP_016863694.1:p.Gln119Ter
XM_024454048.1:c.1486C>T	XP_024309816.1:p.Gln496Ter
XM_024454049.1:c.1198C>T	XP_024309817.1:p.Gln400Ter