Canonical Allele Identifier: CA3026674

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635012C>T , CM000666.2:g.102635012C>T	GRCh38
NC_000004.11:g.103556169C>T , CM000666.1:g.103556169C>T	GRCh37
NC_000004.10:g.103775217C>T	NCBI36
NG_012804.1:g.130983G>A
NG_012804.2:g.130983G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2191G>A MANE Select	NP_005899.3:p.Val731Met
ENST00000647097.2:c.2191G>A MANE Select	ENSP00000495247.1:p.Val731Met
NM_005908.3:c.2191G>A	NP_005899.3:p.Val731Met
ENST00000226578.8:c.2191G>A	ENSP00000226578.4:p.Val731Met
ENST00000505239.1:c.2020G>A	ENSP00000427322.1:p.Val674Met
ENST00000514430.5:n.6426G>A
ENST00000642252.1:c.2329G>A	ENSP00000495483.1:p.Val777Met
ENST00000644159.1:c.2191G>A	ENSP00000494462.1:p.Val731Met
ENST00000644545.1:c.*831G>A	ENSP00000493992.1:n.*831G>A
ENST00000645348.1:c.*1213G>A	ENSP00000495363.1:n.*1213G>A
ENST00000645558.1:c.1859G>A
ENST00000646311.1:c.*1311G>A	ENSP00000493465.1:n.*1311G>A
ENST00000646727.1:c.*1045G>A	ENSP00000493519.1:n.*1045G>A
ENST00000647129.1:c.2280G>A	ENSP00000496137.1:n.2280G>A
XM_011531965.1:c.1285G>A	XP_011530267.1:p.Val429Met
XM_011531966.1:c.946G>A	XP_011530268.1:p.Val316Met
XM_017008203.1:c.1828G>A	XP_016863692.1:p.Val610Met
XM_017008204.2:c.1543G>A	XP_016863693.1:p.Val515Met
XM_017008205.2:c.985G>A	XP_016863694.1:p.Val329Met
XM_024454048.1:c.2116G>A	XP_024309816.1:p.Val706Met
XM_024454049.1:c.1828G>A	XP_024309817.1:p.Val610Met