Canonical Allele Identifier: CA115141

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102669004G>A , CM000666.2:g.102669004G>A	GRCh38
NC_000004.11:g.103590161G>A , CM000666.1:g.103590161G>A	GRCh37
NC_000004.10:g.103809209G>A	NCBI36
NG_012804.1:g.96991C>T
NG_012804.2:g.96991C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1276C>T MANE Select	NP_005899.3:p.Gln426Ter
ENST00000647097.2:c.1276C>T MANE Select	ENSP00000495247.1:p.Gln426Ter
NM_005908.3:c.1276C>T	NP_005899.3:p.Gln426Ter
ENST00000226578.8:c.1276C>T	ENSP00000226578.4:p.Gln426Ter
ENST00000505239.1:c.1105C>T	ENSP00000427322.1:p.Gln369Ter
ENST00000514430.5:n.1401C>T
ENST00000642252.1:c.1414C>T	ENSP00000495483.1:p.Gln472Ter
ENST00000644159.1:c.1276C>T	ENSP00000494462.1:p.Gln426Ter
ENST00000644545.1:c.1276C>T	ENSP00000493992.1:p.Gln426Ter
ENST00000645348.1:c.*128C>T	ENSP00000495363.1:n.*128C>T
ENST00000645558.1:c.944C>T
ENST00000646311.1:c.*396C>T	ENSP00000493465.1:n.*396C>T
ENST00000646727.1:c.*130C>T	ENSP00000493519.1:n.*130C>T
ENST00000647129.1:c.1153C>T	ENSP00000496137.1:n.1153C>T
XM_011531965.1:c.370C>T	XP_011530267.1:p.Gln124Ter
XM_011531966.1:c.31C>T	XP_011530268.1:p.Gln11Ter
XM_017008203.1:c.913C>T	XP_016863692.1:p.Gln305Ter
XM_017008204.2:c.628C>T	XP_016863693.1:p.Gln210Ter
XM_024454048.1:c.1201C>T	XP_024309816.1:p.Gln401Ter
XM_024454049.1:c.913C>T	XP_024309817.1:p.Gln305Ter