Canonical Allele Identifier: CA357756310

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102632181A>C , CM000666.2:g.102632181A>C	GRCh38
NC_000004.11:g.103553338A>C , CM000666.1:g.103553338A>C	GRCh37
NC_000004.10:g.103772386A>C	NCBI36
NG_012804.1:g.133814T>G
NG_012804.2:g.133814T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2516T>G MANE Select	NP_005899.3:p.Phe839Cys
ENST00000647097.2:c.2516T>G MANE Select	ENSP00000495247.1:p.Phe839Cys
NM_005908.3:c.2516T>G	NP_005899.3:p.Phe839Cys
ENST00000226578.8:c.2516T>G	ENSP00000226578.4:p.Phe839Cys
ENST00000505239.1:c.2345T>G	ENSP00000427322.1:p.Phe782Cys
ENST00000514430.5:n.6751T>G
ENST00000642252.1:c.2654T>G	ENSP00000495483.1:p.Phe885Cys
ENST00000644159.1:c.*78T>G	ENSP00000494462.1:n.*78T>G
ENST00000644545.1:c.*1156T>G	ENSP00000493992.1:n.*1156T>G
ENST00000645348.1:c.*1538T>G	ENSP00000495363.1:n.*1538T>G
ENST00000645558.1:c.2184T>G
ENST00000646311.1:c.*1636T>G	ENSP00000493465.1:n.*1636T>G
ENST00000646727.1:c.*1370T>G	ENSP00000493519.1:n.*1370T>G
ENST00000647129.1:c.2605T>G	ENSP00000496137.1:n.2605T>G
XM_011531965.1:c.1610T>G	XP_011530267.1:p.Phe537Cys
XM_011531966.1:c.1271T>G	XP_011530268.1:p.Phe424Cys
XM_017008203.1:c.2153T>G	XP_016863692.1:p.Phe718Cys
XM_017008204.2:c.1868T>G	XP_016863693.1:p.Phe623Cys
XM_017008205.2:c.1310T>G	XP_016863694.1:p.Phe437Cys
XM_024454048.1:c.2441T>G	XP_024309816.1:p.Phe814Cys
XM_024454049.1:c.2153T>G	XP_024309817.1:p.Phe718Cys