Canonical Allele Identifier: CA357769281

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102690661G>A , CM000666.2:g.102690661G>A	GRCh38
NC_000004.11:g.103611818G>A , CM000666.1:g.103611818G>A	GRCh37
NC_000004.10:g.103830866G>A	NCBI36
NG_012804.1:g.75334C>T
NG_012804.2:g.75334C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.784C>T MANE Select	NP_005899.3:p.Gln262Ter
ENST00000647097.2:c.784C>T MANE Select	ENSP00000495247.1:p.Gln262Ter
NM_005908.3:c.784C>T	NP_005899.3:p.Gln262Ter
ENST00000226578.8:c.784C>T	ENSP00000226578.4:p.Gln262Ter
ENST00000505239.1:c.613C>T	ENSP00000427322.1:p.Gln205Ter
ENST00000514430.5:n.909C>T
ENST00000642252.1:c.784C>T	ENSP00000495483.1:p.Gln262Ter
ENST00000644159.1:c.784C>T	ENSP00000494462.1:p.Gln262Ter
ENST00000644545.1:c.784C>T	ENSP00000493992.1:p.Gln262Ter
ENST00000645348.1:c.784C>T	ENSP00000495363.1:p.Gln262Ter
ENST00000645558.1:c.290C>T
ENST00000646311.1:c.784C>T	ENSP00000493465.1:p.Gln262Ter
ENST00000646727.1:c.784C>T	ENSP00000493519.1:p.Gln262Ter
ENST00000647129.1:c.466C>T	ENSP00000496137.1:p.Gln156Ter
XM_011531965.1:c.-123C>T	XP_011530267.1:n.-123C>T
XM_017008203.1:c.421C>T	XP_016863692.1:p.Gln141Ter
XM_017008204.2:c.136C>T	XP_016863693.1:p.Gln46Ter
XM_024454048.1:c.709C>T	XP_024309816.1:p.Gln237Ter
XM_024454049.1:c.421C>T	XP_024309817.1:p.Gln141Ter