Canonical Allele Identifier: CA357769561

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102690697G>A , CM000666.2:g.102690697G>A	GRCh38
NC_000004.11:g.103611854G>A , CM000666.1:g.103611854G>A	GRCh37
NC_000004.10:g.103830902G>A	NCBI36
NG_012804.1:g.75298C>T
NG_012804.2:g.75298C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.748C>T MANE Select	NP_005899.3:p.Gln250Ter
ENST00000647097.2:c.748C>T MANE Select	ENSP00000495247.1:p.Gln250Ter
NM_005908.3:c.748C>T	NP_005899.3:p.Gln250Ter
ENST00000226578.8:c.748C>T	ENSP00000226578.4:p.Gln250Ter
ENST00000505239.1:c.577C>T	ENSP00000427322.1:p.Gln193Ter
ENST00000514430.5:n.873C>T
ENST00000642252.1:c.748C>T	ENSP00000495483.1:p.Gln250Ter
ENST00000644159.1:c.748C>T	ENSP00000494462.1:p.Gln250Ter
ENST00000644545.1:c.748C>T	ENSP00000493992.1:p.Gln250Ter
ENST00000645348.1:c.748C>T	ENSP00000495363.1:p.Gln250Ter
ENST00000645558.1:c.254C>T
ENST00000646311.1:c.748C>T	ENSP00000493465.1:p.Gln250Ter
ENST00000646727.1:c.748C>T	ENSP00000493519.1:p.Gln250Ter
ENST00000647129.1:c.430C>T	ENSP00000496137.1:p.Gln144Ter
XM_011531965.1:c.-159C>T	XP_011530267.1:n.-159C>T
XM_017008203.1:c.385C>T	XP_016863692.1:p.Gln129Ter
XM_017008204.2:c.100C>T	XP_016863693.1:p.Gln34Ter
XM_024454048.1:c.673C>T	XP_024309816.1:p.Gln225Ter
XM_024454049.1:c.385C>T	XP_024309817.1:p.Gln129Ter