Canonical Allele Identifier: CA3026711

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102635907A>G , CM000666.2:g.102635907A>G	GRCh38
NC_000004.11:g.103557064A>G , CM000666.1:g.103557064A>G	GRCh37
NC_000004.10:g.103776112A>G	NCBI36
NG_012804.1:g.130088T>C
NG_012804.2:g.130088T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2115T>C MANE Select	NP_005899.3:p.Tyr705=
ENST00000647097.2:c.2115T>C MANE Select	ENSP00000495247.1:p.Tyr705=
NM_005908.3:c.2115T>C	NP_005899.3:p.Tyr705=
ENST00000226578.8:c.2115T>C	ENSP00000226578.4:p.Tyr705=
ENST00000505239.1:c.1944T>C	ENSP00000427322.1:p.Tyr648=
ENST00000508141.1:n.548T>C
ENST00000514430.5:n.6350T>C
ENST00000642252.1:c.2253T>C	ENSP00000495483.1:p.Tyr751=
ENST00000644159.1:c.2115T>C	ENSP00000494462.1:p.Tyr705=
ENST00000644545.1:c.*755T>C	ENSP00000493992.1:n.*755T>C
ENST00000645348.1:c.*1137T>C	ENSP00000495363.1:n.*1137T>C
ENST00000645558.1:c.1783T>C
ENST00000646311.1:c.*1235T>C	ENSP00000493465.1:n.*1235T>C
ENST00000646727.1:c.*969T>C	ENSP00000493519.1:n.*969T>C
ENST00000647129.1:c.2204T>C	ENSP00000496137.1:n.2204T>C
XM_011531965.1:c.1209T>C	XP_011530267.1:p.Tyr403=
XM_011531966.1:c.870T>C	XP_011530268.1:p.Tyr290=
XM_017008203.1:c.1752T>C	XP_016863692.1:p.Tyr584=
XM_017008204.2:c.1467T>C	XP_016863693.1:p.Tyr489=
XM_017008205.2:c.909T>C	XP_016863694.1:p.Tyr303=
XM_024454048.1:c.2040T>C	XP_024309816.1:p.Tyr680=
XM_024454049.1:c.1752T>C	XP_024309817.1:p.Tyr584=