Canonical Allele Identifier: CA1481507867

Gene: MANBA

Linked Data

• ClinVar Variation Id: 2864007
• ClinVar RCV Id: RCV003600006
• dbSNP Id: rs1724207859

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102760711G>C , CM000666.2:g.102760711G>C	GRCh38
NC_000004.11:g.103681868G>C , CM000666.1:g.103681868G>C	GRCh37
NC_000004.10:g.103900913G>C	NCBI36
NG_012804.1:g.5284C>G
NG_012804.2:g.5284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.177+7C>G	ENSP00000495483.1:n.177+7C>G
ENST00000644159.1:c.177+7C>G	ENSP00000494462.1:n.177+7C>G
ENST00000644545.1:c.177+7C>G	ENSP00000493992.1:n.177+7C>G
ENST00000644965.1:c.177+7C>G	ENSP00000495818.1:n.177+7C>G
ENST00000645348.1:c.177+7C>G	ENSP00000495363.1:n.177+7C>G
ENST00000646311.1:c.177+7C>G	ENSP00000493465.1:n.177+7C>G
ENST00000646727.1:c.177+7C>G	ENSP00000493519.1:n.177+7C>G
ENST00000647097.2:c.177+7C>G MANE Select	ENSP00000495247.1:n.177+7C>G
ENST00000226578.8:c.177+7C>G	ENSP00000226578.4:n.177+7C>G
ENST00000505239.1:c.177+7C>G	ENSP00000427322.1:n.177+7C>G
ENST00000507358.1:n.277+7C>G
ENST00000511813.1:c.177+7C>G	ENSP00000422001.1:n.177+7C>G
ENST00000514430.5:n.224+7C>G
NM_005908.3:c.177+7C>G	NP_005899.3:n.177+7C>G
XM_017008203.1:c.-360+7C>G	XP_016863692.1:n.-360+7C>G
XM_017008204.2:c.-348+7C>G	XP_016863693.1:n.-348+7C>G
NM_005908.4:c.177+7C>G MANE Select	NP_005899.3:n.177+7C>G