Canonical Allele Identifier: CA3026671

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635002C>G , CM000666.2:g.102635002C>G	GRCh38
NC_000004.11:g.103556159C>G , CM000666.1:g.103556159C>G	GRCh37
NC_000004.10:g.103775207C>G	NCBI36
NG_012804.1:g.130993G>C
NG_012804.2:g.130993G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.2339G>C	ENSP00000495483.1:p.Arg780Pro
ENST00000644159.1:c.2201G>C	ENSP00000494462.1:p.Arg734Pro
ENST00000644545.1:c.*841G>C	ENSP00000493992.1:n.*841G>C
ENST00000645348.1:c.*1223G>C	ENSP00000495363.1:n.*1223G>C
ENST00000645558.1:c.1869G>C
ENST00000646311.1:c.*1321G>C	ENSP00000493465.1:n.*1321G>C
ENST00000646727.1:c.*1055G>C	ENSP00000493519.1:n.*1055G>C
ENST00000647097.2:c.2201G>C MANE Select	ENSP00000495247.1:p.Arg734Pro
ENST00000647129.1:c.2290G>C	ENSP00000496137.1:n.2290G>C
ENST00000226578.8:c.2201G>C	ENSP00000226578.4:p.Arg734Pro
ENST00000505239.1:c.2030G>C	ENSP00000427322.1:p.Arg677Pro
ENST00000514430.5:n.6436G>C
NM_005908.3:c.2201G>C	NP_005899.3:p.Arg734Pro
XM_011531965.1:c.1295G>C	XP_011530267.1:p.Arg432Pro
XM_011531966.1:c.956G>C	XP_011530268.1:p.Arg319Pro
XM_017008203.1:c.1838G>C	XP_016863692.1:p.Arg613Pro
XM_017008204.2:c.1553G>C	XP_016863693.1:p.Arg518Pro
XM_017008205.2:c.995G>C	XP_016863694.1:p.Arg332Pro
XM_024454048.1:c.2126G>C	XP_024309816.1:p.Arg709Pro
XM_024454049.1:c.1838G>C	XP_024309817.1:p.Arg613Pro
NM_005908.4:c.2201G>C MANE Select	NP_005899.3:p.Arg734Pro