Canonical Allele Identifier: CA3027022

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102673918C>A , CM000666.2:g.102673918C>A	GRCh38
NC_000004.11:g.103595075C>A , CM000666.1:g.103595075C>A	GRCh37
NC_000004.10:g.103814123C>A	NCBI36
NG_012804.1:g.92077G>T
NG_012804.2:g.92077G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1112+1G>T MANE Select	NP_005899.3:n.1112+1G>T
ENST00000647097.2:c.1112+1G>T MANE Select	ENSP00000495247.1:n.1112+1G>T
NM_005908.3:c.1112+1G>T	NP_005899.3:n.1112+1G>T
ENST00000226578.8:c.1112+1G>T	ENSP00000226578.4:n.1112+1G>T
ENST00000505239.1:c.941+1G>T	ENSP00000427322.1:n.941+1G>T
ENST00000514430.5:n.1237+1G>T
ENST00000642252.1:c.1112+1G>T	ENSP00000495483.1:n.1112+1G>T
ENST00000644159.1:c.1112+1G>T	ENSP00000494462.1:n.1112+1G>T
ENST00000644545.1:c.1112+1G>T	ENSP00000493992.1:n.1112+1G>T
ENST00000645348.1:c.1112+1G>T	ENSP00000495363.1:n.1112+1G>T
ENST00000645558.1:c.618+1G>T
ENST00000646311.1:c.*232+1G>T	ENSP00000493465.1:n.*232+1G>T
ENST00000646727.1:c.1112+1G>T	ENSP00000493519.1:n.1112+1G>T
ENST00000647129.1:c.893+1G>T	ENSP00000496137.1:n.893+1G>T
XM_011531965.1:c.206+1G>T	XP_011530267.1:n.206+1G>T
XM_017008203.1:c.749+1G>T	XP_016863692.1:n.749+1G>T
XM_017008204.2:c.464+1G>T	XP_016863693.1:n.464+1G>T
XM_024454048.1:c.1037+1G>T	XP_024309816.1:n.1037+1G>T
XM_024454049.1:c.749+1G>T	XP_024309817.1:n.749+1G>T