Canonical Allele Identifier: CA357958452

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102726587A>G , CM000666.2:g.102726587A>G	GRCh38
NC_000004.11:g.103647744A>G , CM000666.1:g.103647744A>G	GRCh37
NC_000004.10:g.103866788A>G	NCBI36
NG_012804.1:g.39408T>C
NG_012804.2:g.39408T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.272+2T>C MANE Select	NP_005899.3:n.272+2T>C
ENST00000647097.2:c.272+2T>C MANE Select	ENSP00000495247.1:n.272+2T>C
NM_005908.3:c.272+2T>C	NP_005899.3:n.272+2T>C
ENST00000226578.8:c.272+2T>C	ENSP00000226578.4:n.272+2T>C
ENST00000505239.1:c.272+2T>C	ENSP00000427322.1:n.272+2T>C
ENST00000511813.1:c.*238+2T>C	ENSP00000422001.1:n.*238+2T>C
ENST00000514430.5:n.319+2T>C
ENST00000642252.1:c.272+2T>C	ENSP00000495483.1:n.272+2T>C
ENST00000644159.1:c.272+2T>C	ENSP00000494462.1:n.272+2T>C
ENST00000644545.1:c.272+2T>C	ENSP00000493992.1:n.272+2T>C
ENST00000644965.1:c.*178-2620T>C	ENSP00000495818.1:n.*178-2620T>C
ENST00000645348.1:c.272+2T>C	ENSP00000495363.1:n.272+2T>C
ENST00000646311.1:c.272+2T>C	ENSP00000493465.1:n.272+2T>C
ENST00000646451.1:c.197+2T>C	ENSP00000495846.1:n.197+2T>C
ENST00000646727.1:c.272+2T>C	ENSP00000493519.1:n.272+2T>C
XM_017008203.1:c.-92+2T>C	XP_016863692.1:n.-92+2T>C
XM_017008204.2:c.-253+2T>C	XP_016863693.1:n.-253+2T>C
XM_024454048.1:c.197+2T>C	XP_024309816.1:n.197+2T>C
XM_024454049.1:c.-92+2T>C	XP_024309817.1:n.-92+2T>C