Canonical Allele Identifier: CA3026660

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634934A>G , CM000666.2:g.102634934A>G	GRCh38
NC_000004.11:g.103556091A>G , CM000666.1:g.103556091A>G	GRCh37
NC_000004.10:g.103775139A>G	NCBI36
NG_012804.1:g.131061T>C
NG_012804.2:g.131061T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2269T>C MANE Select	NP_005899.3:p.Leu757=
ENST00000647097.2:c.2269T>C MANE Select	ENSP00000495247.1:p.Leu757=
NM_005908.3:c.2269T>C	NP_005899.3:p.Leu757=
ENST00000226578.8:c.2269T>C	ENSP00000226578.4:p.Leu757=
ENST00000505239.1:c.2098T>C	ENSP00000427322.1:p.Leu700=
ENST00000514430.5:n.6504T>C
ENST00000642252.1:c.2407T>C	ENSP00000495483.1:p.Leu803=
ENST00000644159.1:c.2269T>C	ENSP00000494462.1:p.Leu757=
ENST00000644545.1:c.*909T>C	ENSP00000493992.1:n.*909T>C
ENST00000645348.1:c.*1291T>C	ENSP00000495363.1:n.*1291T>C
ENST00000645558.1:c.1937T>C
ENST00000646311.1:c.*1389T>C	ENSP00000493465.1:n.*1389T>C
ENST00000646727.1:c.*1123T>C	ENSP00000493519.1:n.*1123T>C
ENST00000647129.1:c.2358T>C	ENSP00000496137.1:n.2358T>C
XM_011531965.1:c.1363T>C	XP_011530267.1:p.Leu455=
XM_011531966.1:c.1024T>C	XP_011530268.1:p.Leu342=
XM_017008203.1:c.1906T>C	XP_016863692.1:p.Leu636=
XM_017008204.2:c.1621T>C	XP_016863693.1:p.Leu541=
XM_017008205.2:c.1063T>C	XP_016863694.1:p.Leu355=
XM_024454048.1:c.2194T>C	XP_024309816.1:p.Leu732=
XM_024454049.1:c.1906T>C	XP_024309817.1:p.Leu636=