Canonical Allele Identifier: CA3026592

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102632157G>T , CM000666.2:g.102632157G>T	GRCh38
NC_000004.11:g.103553314G>T , CM000666.1:g.103553314G>T	GRCh37
NC_000004.10:g.103772362G>T	NCBI36
NG_012804.1:g.133838C>A
NG_012804.2:g.133838C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2540C>A MANE Select	NP_005899.3:p.Thr847Asn
ENST00000647097.2:c.2540C>A MANE Select	ENSP00000495247.1:p.Thr847Asn
NM_005908.3:c.2540C>A	NP_005899.3:p.Thr847Asn
ENST00000226578.8:c.2540C>A	ENSP00000226578.4:p.Thr847Asn
ENST00000505239.1:c.2369C>A	ENSP00000427322.1:p.Thr790Asn
ENST00000514430.5:n.6775C>A
ENST00000642252.1:c.2678C>A	ENSP00000495483.1:p.Thr893Asn
ENST00000644159.1:c.*102C>A	ENSP00000494462.1:n.*102C>A
ENST00000644545.1:c.*1180C>A	ENSP00000493992.1:n.*1180C>A
ENST00000645348.1:c.*1562C>A	ENSP00000495363.1:n.*1562C>A
ENST00000645558.1:c.2208C>A
ENST00000646311.1:c.*1660C>A	ENSP00000493465.1:n.*1660C>A
ENST00000646727.1:c.*1394C>A	ENSP00000493519.1:n.*1394C>A
ENST00000647129.1:c.2629C>A	ENSP00000496137.1:n.2629C>A
XM_011531965.1:c.1634C>A	XP_011530267.1:p.Thr545Asn
XM_011531966.1:c.1295C>A	XP_011530268.1:p.Thr432Asn
XM_017008203.1:c.2177C>A	XP_016863692.1:p.Thr726Asn
XM_017008204.2:c.1892C>A	XP_016863693.1:p.Thr631Asn
XM_017008205.2:c.1334C>A	XP_016863694.1:p.Thr445Asn
XM_024454048.1:c.2465C>A	XP_024309816.1:p.Thr822Asn
XM_024454049.1:c.2177C>A	XP_024309817.1:p.Thr726Asn