Canonical Allele Identifier: CA357762250

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102669044C>T , CM000666.2:g.102669044C>T	GRCh38
NC_000004.11:g.103590201C>T , CM000666.1:g.103590201C>T	GRCh37
NC_000004.10:g.103809249C>T	NCBI36
NG_012804.1:g.96951G>A
NG_012804.2:g.96951G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1236G>A MANE Select	NP_005899.3:p.Trp412Ter
ENST00000647097.2:c.1236G>A MANE Select	ENSP00000495247.1:p.Trp412Ter
NM_005908.3:c.1236G>A	NP_005899.3:p.Trp412Ter
ENST00000226578.8:c.1236G>A	ENSP00000226578.4:p.Trp412Ter
ENST00000505239.1:c.1065G>A	ENSP00000427322.1:p.Trp355Ter
ENST00000514430.5:n.1361G>A
ENST00000642252.1:c.1374G>A	ENSP00000495483.1:p.Trp458Ter
ENST00000644159.1:c.1236G>A	ENSP00000494462.1:p.Trp412Ter
ENST00000644545.1:c.1236G>A	ENSP00000493992.1:p.Trp412Ter
ENST00000645348.1:c.*88G>A	ENSP00000495363.1:n.*88G>A
ENST00000645558.1:c.904G>A
ENST00000646311.1:c.*356G>A	ENSP00000493465.1:n.*356G>A
ENST00000646727.1:c.*90G>A	ENSP00000493519.1:n.*90G>A
ENST00000647129.1:c.1113G>A	ENSP00000496137.1:n.1113G>A
XM_011531965.1:c.330G>A	XP_011530267.1:p.Trp110Ter
XM_011531966.1:c.-10G>A	XP_011530268.1:n.-10G>A
XM_017008203.1:c.873G>A	XP_016863692.1:p.Trp291Ter
XM_017008204.2:c.588G>A	XP_016863693.1:p.Trp196Ter
XM_024454048.1:c.1161G>A	XP_024309816.1:p.Trp387Ter
XM_024454049.1:c.873G>A	XP_024309817.1:p.Trp291Ter