Canonical Allele Identifier: CA1481502153

Gene: MANBA

Linked Data

• dbSNP Id: rs223492
• gnomAD v4: 4-102753951-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102753951G>T , CM000666.2:g.102753951G>T	GRCh38
NC_000004.11:g.103675108G>T , CM000666.1:g.103675108G>T	GRCh37
NG_012804.1:g.12044C>A
NG_012804.2:g.12044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642252.1:c.177+6767C>A	ENSP00000495483.1:n.177+6767C>A
ENST00000644159.1:c.177+6767C>A	ENSP00000494462.1:n.177+6767C>A
ENST00000644545.1:c.177+6767C>A	ENSP00000493992.1:n.177+6767C>A
ENST00000644965.1:c.177+6767C>A	ENSP00000495818.1:n.177+6767C>A
ENST00000645348.1:c.177+6767C>A	ENSP00000495363.1:n.177+6767C>A
ENST00000646311.1:c.177+6767C>A	ENSP00000493465.1:n.177+6767C>A
ENST00000646727.1:c.177+6767C>A	ENSP00000493519.1:n.177+6767C>A
ENST00000647097.2:c.177+6767C>A MANE Select	ENSP00000495247.1:n.177+6767C>A
ENST00000226578.8:c.177+6767C>A	ENSP00000226578.4:n.177+6767C>A
ENST00000505239.1:c.177+6767C>A	ENSP00000427322.1:n.177+6767C>A
ENST00000507358.1:n.322C>A
ENST00000511813.1:c.*15C>A	ENSP00000422001.1:n.*15C>A
ENST00000514430.5:n.224+6767C>A
NM_005908.3:c.177+6767C>A	NP_005899.3:n.177+6767C>A
XM_017008203.1:c.-315C>A	XP_016863692.1:n.-315C>A
XM_017008204.2:c.-348+6767C>A	XP_016863693.1:n.-348+6767C>A
NM_005908.4:c.177+6767C>A MANE Select	NP_005899.3:n.177+6767C>A