Canonical Allele Identifier: CA357758606

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657763C>T , CM000666.2:g.102657763C>T	GRCh38
NC_000004.11:g.103578920C>T , CM000666.1:g.103578920C>T	GRCh37
NC_000004.10:g.103797968C>T	NCBI36
NG_012804.1:g.108232G>A
NG_012804.2:g.108232G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1623G>A MANE Select	NP_005899.3:p.Trp541Ter
ENST00000647097.2:c.1623G>A MANE Select	ENSP00000495247.1:p.Trp541Ter
NM_005908.3:c.1623G>A	NP_005899.3:p.Trp541Ter
ENST00000226578.8:c.1623G>A	ENSP00000226578.4:p.Trp541Ter
ENST00000505239.1:c.1452G>A	ENSP00000427322.1:p.Trp484Ter
ENST00000514430.5:n.5858G>A
ENST00000642252.1:c.1761G>A	ENSP00000495483.1:p.Trp587Ter
ENST00000644159.1:c.1623G>A	ENSP00000494462.1:p.Trp541Ter
ENST00000644545.1:c.*263G>A	ENSP00000493992.1:n.*263G>A
ENST00000645348.1:c.*645G>A	ENSP00000495363.1:n.*645G>A
ENST00000645558.1:c.1291G>A
ENST00000646311.1:c.*743G>A	ENSP00000493465.1:n.*743G>A
ENST00000646727.1:c.*477G>A	ENSP00000493519.1:n.*477G>A
ENST00000647129.1:c.1712G>A	ENSP00000496137.1:n.1712G>A
XM_011531965.1:c.717G>A	XP_011530267.1:p.Trp239Ter
XM_011531966.1:c.378G>A	XP_011530268.1:p.Trp126Ter
XM_017008203.1:c.1260G>A	XP_016863692.1:p.Trp420Ter
XM_017008204.2:c.975G>A	XP_016863693.1:p.Trp325Ter
XM_017008205.2:c.417G>A	XP_016863694.1:p.Trp139Ter
XM_024454048.1:c.1548G>A	XP_024309816.1:p.Trp516Ter
XM_024454049.1:c.1260G>A	XP_024309817.1:p.Trp420Ter