Canonical Allele Identifier: CA440807729

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634962G>A , CM000666.2:g.102634962G>A	GRCh38
NC_000004.11:g.103556119G>A , CM000666.1:g.103556119G>A	GRCh37
NC_000004.10:g.103775167G>A	NCBI36
NG_012804.1:g.131033C>T
NG_012804.2:g.131033C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2241C>T MANE Select	NP_005899.3:p.Val747=
ENST00000647097.2:c.2241C>T MANE Select	ENSP00000495247.1:p.Val747=
NM_005908.3:c.2241C>T	NP_005899.3:p.Val747=
ENST00000226578.8:c.2241C>T	ENSP00000226578.4:p.Val747=
ENST00000505239.1:c.2070C>T	ENSP00000427322.1:p.Val690=
ENST00000514430.5:n.6476C>T
ENST00000642252.1:c.2379C>T	ENSP00000495483.1:p.Val793=
ENST00000644159.1:c.2241C>T	ENSP00000494462.1:p.Val747=
ENST00000644545.1:c.*881C>T	ENSP00000493992.1:n.*881C>T
ENST00000645348.1:c.*1263C>T	ENSP00000495363.1:n.*1263C>T
ENST00000645558.1:c.1909C>T
ENST00000646311.1:c.*1361C>T	ENSP00000493465.1:n.*1361C>T
ENST00000646727.1:c.*1095C>T	ENSP00000493519.1:n.*1095C>T
ENST00000647129.1:c.2330C>T	ENSP00000496137.1:n.2330C>T
XM_011531965.1:c.1335C>T	XP_011530267.1:p.Val445=
XM_011531966.1:c.996C>T	XP_011530268.1:p.Val332=
XM_017008203.1:c.1878C>T	XP_016863692.1:p.Val626=
XM_017008204.2:c.1593C>T	XP_016863693.1:p.Val531=
XM_017008205.2:c.1035C>T	XP_016863694.1:p.Val345=
XM_024454048.1:c.2166C>T	XP_024309816.1:p.Val722=
XM_024454049.1:c.1878C>T	XP_024309817.1:p.Val626=