Canonical Allele Identifier: CA3026833

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657681C>A , CM000666.2:g.102657681C>A	GRCh38
NC_000004.11:g.103578838C>A , CM000666.1:g.103578838C>A	GRCh37
NC_000004.10:g.103797886C>A	NCBI36
NG_012804.1:g.108314G>T
NG_012804.2:g.108314G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1704+1G>T MANE Select	NP_005899.3:n.1704+1G>T
ENST00000647097.2:c.1704+1G>T MANE Select	ENSP00000495247.1:n.1704+1G>T
NM_005908.3:c.1704+1G>T	NP_005899.3:n.1704+1G>T
ENST00000226578.8:c.1704+1G>T	ENSP00000226578.4:n.1704+1G>T
ENST00000505239.1:c.1533+1G>T	ENSP00000427322.1:n.1533+1G>T
ENST00000514430.5:n.5939+1G>T
ENST00000642252.1:c.1842+1G>T	ENSP00000495483.1:n.1842+1G>T
ENST00000644159.1:c.1704+1G>T	ENSP00000494462.1:n.1704+1G>T
ENST00000644545.1:c.*344+1G>T	ENSP00000493992.1:n.*344+1G>T
ENST00000645348.1:c.*726+1G>T	ENSP00000495363.1:n.*726+1G>T
ENST00000645558.1:c.1372+1G>T
ENST00000646311.1:c.*824+1G>T	ENSP00000493465.1:n.*824+1G>T
ENST00000646727.1:c.*558+1G>T	ENSP00000493519.1:n.*558+1G>T
ENST00000647129.1:c.1793+1G>T	ENSP00000496137.1:n.1793+1G>T
XM_011531965.1:c.798+1G>T	XP_011530267.1:n.798+1G>T
XM_011531966.1:c.459+1G>T	XP_011530268.1:n.459+1G>T
XM_017008203.1:c.1341+1G>T	XP_016863692.1:n.1341+1G>T
XM_017008204.2:c.1056+1G>T	XP_016863693.1:n.1056+1G>T
XM_017008205.2:c.498+1G>T	XP_016863694.1:n.498+1G>T
XM_024454048.1:c.1629+1G>T	XP_024309816.1:n.1629+1G>T
XM_024454049.1:c.1341+1G>T	XP_024309817.1:n.1341+1G>T