Canonical Allele Identifier: CA115137

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102657873A>G , CM000666.2:g.102657873A>G	GRCh38
NC_000004.11:g.103579030A>G , CM000666.1:g.103579030A>G	GRCh37
NC_000004.10:g.103798078A>G	NCBI36
NG_012804.1:g.108122T>C
NG_012804.2:g.108122T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1513T>C MANE Select	NP_005899.3:p.Ser505Pro
ENST00000647097.2:c.1513T>C MANE Select	ENSP00000495247.1:p.Ser505Pro
NM_005908.3:c.1513T>C	NP_005899.3:p.Ser505Pro
ENST00000226578.8:c.1513T>C	ENSP00000226578.4:p.Ser505Pro
ENST00000505239.1:c.1342T>C	ENSP00000427322.1:p.Ser448Pro
ENST00000514430.5:n.5748T>C
ENST00000642252.1:c.1651T>C	ENSP00000495483.1:p.Ser551Pro
ENST00000644159.1:c.1513T>C	ENSP00000494462.1:p.Ser505Pro
ENST00000644545.1:c.*153T>C	ENSP00000493992.1:n.*153T>C
ENST00000645348.1:c.*535T>C	ENSP00000495363.1:n.*535T>C
ENST00000645558.1:c.1181T>C
ENST00000646311.1:c.*633T>C	ENSP00000493465.1:n.*633T>C
ENST00000646727.1:c.*367T>C	ENSP00000493519.1:n.*367T>C
ENST00000647129.1:c.1602T>C	ENSP00000496137.1:n.1602T>C
XM_011531965.1:c.607T>C	XP_011530267.1:p.Ser203Pro
XM_011531966.1:c.268T>C	XP_011530268.1:p.Ser90Pro
XM_017008203.1:c.1150T>C	XP_016863692.1:p.Ser384Pro
XM_017008204.2:c.865T>C	XP_016863693.1:p.Ser289Pro
XM_017008205.2:c.307T>C	XP_016863694.1:p.Ser103Pro
XM_024454048.1:c.1438T>C	XP_024309816.1:p.Ser480Pro
XM_024454049.1:c.1150T>C	XP_024309817.1:p.Ser384Pro