Canonical Allele Identifier: CA3026645

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634845G>A , CM000666.2:g.102634845G>A	GRCh38
NC_000004.11:g.103556002G>A , CM000666.1:g.103556002G>A	GRCh37
NC_000004.10:g.103775050G>A	NCBI36
NG_012804.1:g.131150C>T
NG_012804.2:g.131150C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2358C>T MANE Select	NP_005899.3:p.Asn786=
ENST00000647097.2:c.2358C>T MANE Select	ENSP00000495247.1:p.Asn786=
NM_005908.3:c.2358C>T	NP_005899.3:p.Asn786=
ENST00000226578.8:c.2358C>T	ENSP00000226578.4:p.Asn786=
ENST00000505239.1:c.2187C>T	ENSP00000427322.1:p.Asn729=
ENST00000514430.5:n.6593C>T
ENST00000642252.1:c.2496C>T	ENSP00000495483.1:p.Asn832=
ENST00000644159.1:c.2358C>T	ENSP00000494462.1:p.Asn786=
ENST00000644545.1:c.*998C>T	ENSP00000493992.1:n.*998C>T
ENST00000645348.1:c.*1380C>T	ENSP00000495363.1:n.*1380C>T
ENST00000645558.1:c.2026C>T
ENST00000646311.1:c.*1478C>T	ENSP00000493465.1:n.*1478C>T
ENST00000646727.1:c.*1212C>T	ENSP00000493519.1:n.*1212C>T
ENST00000647129.1:c.2447C>T	ENSP00000496137.1:n.2447C>T
XM_011531965.1:c.1452C>T	XP_011530267.1:p.Asn484=
XM_011531966.1:c.1113C>T	XP_011530268.1:p.Asn371=
XM_017008203.1:c.1995C>T	XP_016863692.1:p.Asn665=
XM_017008204.2:c.1710C>T	XP_016863693.1:p.Asn570=
XM_017008205.2:c.1152C>T	XP_016863694.1:p.Asn384=
XM_024454048.1:c.2283C>T	XP_024309816.1:p.Asn761=
XM_024454049.1:c.1995C>T	XP_024309817.1:p.Asn665=