Canonical Allele Identifier: CA3027175
Community Standard Title: NM_005908.4(MANBA):c.550-1G>A
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102714562C>T , CM000666.2:g.102714562C>T GRCh38
NC_000004.11:g.103635719C>T , CM000666.1:g.103635719C>T GRCh37
NC_000004.10:g.103854768C>T NCBI36
NG_012804.1:g.51433G>A
NG_012804.2:g.51433G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.550-1G>A MANE Select NP_005899.3:n.550-1G>A
ENST00000647097.2:c.550-1G>A MANE Select ENSP00000495247.1:n.550-1G>A
NM_005908.3:c.550-1G>A NP_005899.3:n.550-1G>A
ENST00000226578.8:c.550-1G>A ENSP00000226578.4:n.550-1G>A
ENST00000505239.1:c.379-1G>A ENSP00000427322.1:n.379-1G>A
ENST00000514430.5:n.597-1G>A
ENST00000642252.1:c.550-1G>A ENSP00000495483.1:n.550-1G>A
ENST00000644159.1:c.550-1G>A ENSP00000494462.1:n.550-1G>A
ENST00000644545.1:c.550-1G>A ENSP00000493992.1:n.550-1G>A
ENST00000645348.1:c.550-1G>A ENSP00000495363.1:n.550-1G>A
ENST00000645558.1:c.56-1G>A
ENST00000646311.1:c.550-1G>A ENSP00000493465.1:n.550-1G>A
ENST00000646451.1:c.475-1G>A ENSP00000495846.1:n.475-1G>A
ENST00000646727.1:c.550-1G>A ENSP00000493519.1:n.550-1G>A
ENST00000647129.1:c.232-1G>A ENSP00000496137.1:n.232-1G>A
XM_017008203.1:c.187-1G>A XP_016863692.1:n.187-1G>A
XM_017008204.2:c.25+8309G>A XP_016863693.1:n.25+8309G>A
XM_024454048.1:c.475-1G>A XP_024309816.1:n.475-1G>A
XM_024454049.1:c.187-1G>A XP_024309817.1:n.187-1G>A