Canonical Allele Identifier: CA3026642

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102634825G>A , CM000666.2:g.102634825G>A	GRCh38
NC_000004.11:g.103555982G>A , CM000666.1:g.103555982G>A	GRCh37
NC_000004.10:g.103775030G>A	NCBI36
NG_012804.1:g.131170C>T
NG_012804.2:g.131170C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.2378C>T MANE Select	NP_005899.3:p.Pro793Leu
ENST00000647097.2:c.2378C>T MANE Select	ENSP00000495247.1:p.Pro793Leu
NM_005908.3:c.2378C>T	NP_005899.3:p.Pro793Leu
ENST00000226578.8:c.2378C>T	ENSP00000226578.4:p.Pro793Leu
ENST00000505239.1:c.2207C>T	ENSP00000427322.1:p.Pro736Leu
ENST00000514430.5:n.6613C>T
ENST00000642252.1:c.2516C>T	ENSP00000495483.1:p.Pro839Leu
ENST00000644159.1:c.2378C>T	ENSP00000494462.1:p.Pro793Leu
ENST00000644545.1:c.*1018C>T	ENSP00000493992.1:n.*1018C>T
ENST00000645348.1:c.*1400C>T	ENSP00000495363.1:n.*1400C>T
ENST00000645558.1:c.2046C>T
ENST00000646311.1:c.*1498C>T	ENSP00000493465.1:n.*1498C>T
ENST00000646727.1:c.*1232C>T	ENSP00000493519.1:n.*1232C>T
ENST00000647129.1:c.2467C>T	ENSP00000496137.1:n.2467C>T
XM_011531965.1:c.1472C>T	XP_011530267.1:p.Pro491Leu
XM_011531966.1:c.1133C>T	XP_011530268.1:p.Pro378Leu
XM_017008203.1:c.2015C>T	XP_016863692.1:p.Pro672Leu
XM_017008204.2:c.1730C>T	XP_016863693.1:p.Pro577Leu
XM_017008205.2:c.1172C>T	XP_016863694.1:p.Pro391Leu
XM_024454048.1:c.2303C>T	XP_024309816.1:p.Pro768Leu
XM_024454049.1:c.2015C>T	XP_024309817.1:p.Pro672Leu