Canonical Allele Identifier: CA357756666

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634846T>C , CM000666.2:g.102634846T>C	GRCh38
NC_000004.11:g.103556003T>C , CM000666.1:g.103556003T>C	GRCh37
NC_000004.10:g.103775051T>C	NCBI36
NG_012804.1:g.131149A>G
NG_012804.2:g.131149A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2357A>G MANE Select	NP_005899.3:p.Asn786Ser
ENST00000647097.2:c.2357A>G MANE Select	ENSP00000495247.1:p.Asn786Ser
NM_005908.3:c.2357A>G	NP_005899.3:p.Asn786Ser
ENST00000226578.8:c.2357A>G	ENSP00000226578.4:p.Asn786Ser
ENST00000505239.1:c.2186A>G	ENSP00000427322.1:p.Asn729Ser
ENST00000514430.5:n.6592A>G
ENST00000642252.1:c.2495A>G	ENSP00000495483.1:p.Asn832Ser
ENST00000644159.1:c.2357A>G	ENSP00000494462.1:p.Asn786Ser
ENST00000644545.1:c.*997A>G	ENSP00000493992.1:n.*997A>G
ENST00000645348.1:c.*1379A>G	ENSP00000495363.1:n.*1379A>G
ENST00000645558.1:c.2025A>G
ENST00000646311.1:c.*1477A>G	ENSP00000493465.1:n.*1477A>G
ENST00000646727.1:c.*1211A>G	ENSP00000493519.1:n.*1211A>G
ENST00000647129.1:c.2446A>G	ENSP00000496137.1:n.2446A>G
XM_011531965.1:c.1451A>G	XP_011530267.1:p.Asn484Ser
XM_011531966.1:c.1112A>G	XP_011530268.1:p.Asn371Ser
XM_017008203.1:c.1994A>G	XP_016863692.1:p.Asn665Ser
XM_017008204.2:c.1709A>G	XP_016863693.1:p.Asn570Ser
XM_017008205.2:c.1151A>G	XP_016863694.1:p.Asn384Ser
XM_024454048.1:c.2282A>G	XP_024309816.1:p.Asn761Ser
XM_024454049.1:c.1994A>G	XP_024309817.1:p.Asn665Ser