Canonical Allele Identifier: CA3026943

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102668949G>T , CM000666.2:g.102668949G>T	GRCh38
NC_000004.11:g.103590106G>T , CM000666.1:g.103590106G>T	GRCh37
NC_000004.10:g.103809154G>T	NCBI36
NG_012804.1:g.97046C>A
NG_012804.2:g.97046C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1317+14C>A MANE Select	NP_005899.3:n.1317+14C>A
ENST00000647097.2:c.1317+14C>A MANE Select	ENSP00000495247.1:n.1317+14C>A
NM_005908.3:c.1317+14C>A	NP_005899.3:n.1317+14C>A
ENST00000226578.8:c.1317+14C>A	ENSP00000226578.4:n.1317+14C>A
ENST00000505239.1:c.1146+14C>A	ENSP00000427322.1:n.1146+14C>A
ENST00000514430.5:n.1456C>A
ENST00000642252.1:c.1455+14C>A	ENSP00000495483.1:n.1455+14C>A
ENST00000644159.1:c.1317+14C>A	ENSP00000494462.1:n.1317+14C>A
ENST00000644545.1:c.1317+14C>A	ENSP00000493992.1:n.1317+14C>A
ENST00000645348.1:c.*169+14C>A	ENSP00000495363.1:n.*169+14C>A
ENST00000645558.1:c.985+14C>A
ENST00000646311.1:c.*437+14C>A	ENSP00000493465.1:n.*437+14C>A
ENST00000646727.1:c.*171+14C>A	ENSP00000493519.1:n.*171+14C>A
ENST00000647129.1:c.1194+14C>A	ENSP00000496137.1:n.1194+14C>A
XM_011531965.1:c.411+14C>A	XP_011530267.1:n.411+14C>A
XM_011531966.1:c.72+14C>A	XP_011530268.1:n.72+14C>A
XM_017008203.1:c.954+14C>A	XP_016863692.1:n.954+14C>A
XM_017008204.2:c.669+14C>A	XP_016863693.1:n.669+14C>A
XM_024454048.1:c.1242+14C>A	XP_024309816.1:n.1242+14C>A
XM_024454049.1:c.954+14C>A	XP_024309817.1:n.954+14C>A