Canonical Allele Identifier: CA3026605

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102632224C>T , CM000666.2:g.102632224C>T	GRCh38
NC_000004.11:g.103553381C>T , CM000666.1:g.103553381C>T	GRCh37
NC_000004.10:g.103772429C>T	NCBI36
NG_012804.1:g.133771G>A
NG_012804.2:g.133771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.2611G>A	ENSP00000495483.1:p.Ala871Thr
ENST00000644159.1:c.*35G>A	ENSP00000494462.1:n.*35G>A
ENST00000644545.1:c.*1113G>A	ENSP00000493992.1:n.*1113G>A
ENST00000645348.1:c.*1495G>A	ENSP00000495363.1:n.*1495G>A
ENST00000645558.1:c.2141G>A
ENST00000646311.1:c.*1593G>A	ENSP00000493465.1:n.*1593G>A
ENST00000646727.1:c.*1327G>A	ENSP00000493519.1:n.*1327G>A
ENST00000647097.2:c.2473G>A MANE Select	ENSP00000495247.1:p.Ala825Thr
ENST00000647129.1:c.2562G>A	ENSP00000496137.1:n.2562G>A
ENST00000226578.8:c.2473G>A	ENSP00000226578.4:p.Ala825Thr
ENST00000505239.1:c.2302G>A	ENSP00000427322.1:p.Ala768Thr
ENST00000514430.5:n.6708G>A
NM_005908.3:c.2473G>A	NP_005899.3:p.Ala825Thr
XM_011531965.1:c.1567G>A	XP_011530267.1:p.Ala523Thr
XM_011531966.1:c.1228G>A	XP_011530268.1:p.Ala410Thr
XM_017008203.1:c.2110G>A	XP_016863692.1:p.Ala704Thr
XM_017008204.2:c.1825G>A	XP_016863693.1:p.Ala609Thr
XM_017008205.2:c.1267G>A	XP_016863694.1:p.Ala423Thr
XM_024454048.1:c.2398G>A	XP_024309816.1:p.Ala800Thr
XM_024454049.1:c.2110G>A	XP_024309817.1:p.Ala704Thr
NM_005908.4:c.2473G>A MANE Select	NP_005899.3:p.Ala825Thr