Canonical Allele Identifier: CA103133993

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102760716A>G , CM000666.2:g.102760716A>G	GRCh38
NC_000004.11:g.103681873A>G , CM000666.1:g.103681873A>G	GRCh37
NC_000004.10:g.103900918A>G	NCBI36
NG_012804.1:g.5279T>C
NG_012804.2:g.5279T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.177+2T>C MANE Select	NP_005899.3:n.177+2T>C
ENST00000647097.2:c.177+2T>C MANE Select	ENSP00000495247.1:n.177+2T>C
NM_005908.3:c.177+2T>C	NP_005899.3:n.177+2T>C
ENST00000226578.8:c.177+2T>C	ENSP00000226578.4:n.177+2T>C
ENST00000505239.1:c.177+2T>C	ENSP00000427322.1:n.177+2T>C
ENST00000507358.1:n.277+2T>C
ENST00000511813.1:c.177+2T>C	ENSP00000422001.1:n.177+2T>C
ENST00000514430.5:n.224+2T>C
ENST00000642252.1:c.177+2T>C	ENSP00000495483.1:n.177+2T>C
ENST00000644159.1:c.177+2T>C	ENSP00000494462.1:n.177+2T>C
ENST00000644545.1:c.177+2T>C	ENSP00000493992.1:n.177+2T>C
ENST00000644965.1:c.177+2T>C	ENSP00000495818.1:n.177+2T>C
ENST00000645348.1:c.177+2T>C	ENSP00000495363.1:n.177+2T>C
ENST00000646311.1:c.177+2T>C	ENSP00000493465.1:n.177+2T>C
ENST00000646727.1:c.177+2T>C	ENSP00000493519.1:n.177+2T>C
XM_017008203.1:c.-360+2T>C	XP_016863692.1:n.-360+2T>C
XM_017008204.2:c.-348+2T>C	XP_016863693.1:n.-348+2T>C