Canonical Allele Identifier: CA3026933

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102664853C>A , CM000666.2:g.102664853C>A	GRCh38
NC_000004.11:g.103586010C>A , CM000666.1:g.103586010C>A	GRCh37
NC_000004.10:g.103805058C>A	NCBI36
NG_012804.1:g.101142G>T
NG_012804.2:g.101142G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1318-1G>T MANE Select	NP_005899.3:n.1318-1G>T
ENST00000647097.2:c.1318-1G>T MANE Select	ENSP00000495247.1:n.1318-1G>T
NM_005908.3:c.1318-1G>T	NP_005899.3:n.1318-1G>T
ENST00000226578.8:c.1318-1G>T	ENSP00000226578.4:n.1318-1G>T
ENST00000505239.1:c.1147-1G>T	ENSP00000427322.1:n.1147-1G>T
ENST00000514430.5:n.5552G>T
ENST00000642252.1:c.1456-1G>T	ENSP00000495483.1:n.1456-1G>T
ENST00000644159.1:c.1318-1G>T	ENSP00000494462.1:n.1318-1G>T
ENST00000644545.1:c.1318-1G>T	ENSP00000493992.1:n.1318-1G>T
ENST00000645348.1:c.*170-1G>T	ENSP00000495363.1:n.*170-1G>T
ENST00000645558.1:c.986-1G>T
ENST00000646311.1:c.*438-1G>T	ENSP00000493465.1:n.*438-1G>T
ENST00000646727.1:c.*172-1G>T	ENSP00000493519.1:n.*172-1G>T
ENST00000647129.1:c.1407-1G>T	ENSP00000496137.1:n.1407-1G>T
XM_011531965.1:c.412-1G>T	XP_011530267.1:n.412-1G>T
XM_011531966.1:c.73-1G>T	XP_011530268.1:n.73-1G>T
XM_017008203.1:c.955-1G>T	XP_016863692.1:n.955-1G>T
XM_017008204.2:c.670-1G>T	XP_016863693.1:n.670-1G>T
XM_017008205.2:c.112-1G>T	XP_016863694.1:n.112-1G>T
XM_024454048.1:c.1243-1G>T	XP_024309816.1:n.1243-1G>T
XM_024454049.1:c.955-1G>T	XP_024309817.1:n.955-1G>T