Canonical Allele Identifier: CA357758583

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657758C>T , CM000666.2:g.102657758C>T	GRCh38
NC_000004.11:g.103578915C>T , CM000666.1:g.103578915C>T	GRCh37
NC_000004.10:g.103797963C>T	NCBI36
NG_012804.1:g.108237G>A
NG_012804.2:g.108237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.1766G>A	ENSP00000495483.1:p.Trp589Ter
ENST00000644159.1:c.1628G>A	ENSP00000494462.1:p.Trp543Ter
ENST00000644545.1:c.*268G>A	ENSP00000493992.1:n.*268G>A
ENST00000645348.1:c.*650G>A	ENSP00000495363.1:n.*650G>A
ENST00000645558.1:c.1296G>A
ENST00000646311.1:c.*748G>A	ENSP00000493465.1:n.*748G>A
ENST00000646727.1:c.*482G>A	ENSP00000493519.1:n.*482G>A
ENST00000647097.2:c.1628G>A MANE Select	ENSP00000495247.1:p.Trp543Ter
ENST00000647129.1:c.1717G>A	ENSP00000496137.1:n.1717G>A
ENST00000226578.8:c.1628G>A	ENSP00000226578.4:p.Trp543Ter
ENST00000505239.1:c.1457G>A	ENSP00000427322.1:p.Trp486Ter
ENST00000514430.5:n.5863G>A
NM_005908.3:c.1628G>A	NP_005899.3:p.Trp543Ter
XM_011531965.1:c.722G>A	XP_011530267.1:p.Trp241Ter
XM_011531966.1:c.383G>A	XP_011530268.1:p.Trp128Ter
XM_017008203.1:c.1265G>A	XP_016863692.1:p.Trp422Ter
XM_017008204.2:c.980G>A	XP_016863693.1:p.Trp327Ter
XM_017008205.2:c.422G>A	XP_016863694.1:p.Trp141Ter
XM_024454048.1:c.1553G>A	XP_024309816.1:p.Trp518Ter
XM_024454049.1:c.1265G>A	XP_024309817.1:p.Trp422Ter
NM_005908.4:c.1628G>A MANE Select	NP_005899.3:p.Trp543Ter