Canonical Allele Identifier: CA3026654

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634892C>A , CM000666.2:g.102634892C>A	GRCh38
NC_000004.11:g.103556049C>A , CM000666.1:g.103556049C>A	GRCh37
NC_000004.10:g.103775097C>A	NCBI36
NG_012804.1:g.131103G>T
NG_012804.2:g.131103G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2311G>T MANE Select	NP_005899.3:p.Val771Phe
ENST00000647097.2:c.2311G>T MANE Select	ENSP00000495247.1:p.Val771Phe
NM_005908.3:c.2311G>T	NP_005899.3:p.Val771Phe
ENST00000226578.8:c.2311G>T	ENSP00000226578.4:p.Val771Phe
ENST00000505239.1:c.2140G>T	ENSP00000427322.1:p.Val714Phe
ENST00000514430.5:n.6546G>T
ENST00000642252.1:c.2449G>T	ENSP00000495483.1:p.Val817Phe
ENST00000644159.1:c.2311G>T	ENSP00000494462.1:p.Val771Phe
ENST00000644545.1:c.*951G>T	ENSP00000493992.1:n.*951G>T
ENST00000645348.1:c.*1333G>T	ENSP00000495363.1:n.*1333G>T
ENST00000645558.1:c.1979G>T
ENST00000646311.1:c.*1431G>T	ENSP00000493465.1:n.*1431G>T
ENST00000646727.1:c.*1165G>T	ENSP00000493519.1:n.*1165G>T
ENST00000647129.1:c.2400G>T	ENSP00000496137.1:n.2400G>T
XM_011531965.1:c.1405G>T	XP_011530267.1:p.Val469Phe
XM_011531966.1:c.1066G>T	XP_011530268.1:p.Val356Phe
XM_017008203.1:c.1948G>T	XP_016863692.1:p.Val650Phe
XM_017008204.2:c.1663G>T	XP_016863693.1:p.Val555Phe
XM_017008205.2:c.1105G>T	XP_016863694.1:p.Val369Phe
XM_024454048.1:c.2236G>T	XP_024309816.1:p.Val746Phe
XM_024454049.1:c.1948G>T	XP_024309817.1:p.Val650Phe