Canonical Allele Identifier: CA102690167

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657833C>T , CM000666.2:g.102657833C>T	GRCh38
NC_000004.11:g.103578990C>T , CM000666.1:g.103578990C>T	GRCh37
NC_000004.10:g.103798038C>T	NCBI36
NG_012804.1:g.108162G>A
NG_012804.2:g.108162G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1553G>A MANE Select	NP_005899.3:p.Trp518Ter
ENST00000647097.2:c.1553G>A MANE Select	ENSP00000495247.1:p.Trp518Ter
NM_005908.3:c.1553G>A	NP_005899.3:p.Trp518Ter
ENST00000226578.8:c.1553G>A	ENSP00000226578.4:p.Trp518Ter
ENST00000505239.1:c.1382G>A	ENSP00000427322.1:p.Trp461Ter
ENST00000514430.5:n.5788G>A
ENST00000642252.1:c.1691G>A	ENSP00000495483.1:p.Trp564Ter
ENST00000644159.1:c.1553G>A	ENSP00000494462.1:p.Trp518Ter
ENST00000644545.1:c.*193G>A	ENSP00000493992.1:n.*193G>A
ENST00000645348.1:c.*575G>A	ENSP00000495363.1:n.*575G>A
ENST00000645558.1:c.1221G>A
ENST00000646311.1:c.*673G>A	ENSP00000493465.1:n.*673G>A
ENST00000646727.1:c.*407G>A	ENSP00000493519.1:n.*407G>A
ENST00000647129.1:c.1642G>A	ENSP00000496137.1:n.1642G>A
XM_011531965.1:c.647G>A	XP_011530267.1:p.Trp216Ter
XM_011531966.1:c.308G>A	XP_011530268.1:p.Trp103Ter
XM_017008203.1:c.1190G>A	XP_016863692.1:p.Trp397Ter
XM_017008204.2:c.905G>A	XP_016863693.1:p.Trp302Ter
XM_017008205.2:c.347G>A	XP_016863694.1:p.Trp116Ter
XM_024454048.1:c.1478G>A	XP_024309816.1:p.Trp493Ter
XM_024454049.1:c.1190G>A	XP_024309817.1:p.Trp397Ter