Canonical Allele Identifier: CA102697073

Gene: MANBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102669107A>G , CM000666.2:g.102669107A>G	GRCh38
NC_000004.11:g.103590264A>G , CM000666.1:g.103590264A>G	GRCh37
NC_000004.10:g.103809312A>G	NCBI36
NG_012804.1:g.96888T>C
NG_012804.2:g.96888T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005908.4:c.1231-58T>C MANE Select	NP_005899.3:n.1231-58T>C
ENST00000647097.2:c.1231-58T>C MANE Select	ENSP00000495247.1:n.1231-58T>C
NM_005908.3:c.1231-58T>C	NP_005899.3:n.1231-58T>C
ENST00000226578.8:c.1231-58T>C	ENSP00000226578.4:n.1231-58T>C
ENST00000505239.1:c.1060-58T>C	ENSP00000427322.1:n.1060-58T>C
ENST00000514430.5:n.1356-58T>C
ENST00000642252.1:c.1369-58T>C	ENSP00000495483.1:n.1369-58T>C
ENST00000644159.1:c.1231-58T>C	ENSP00000494462.1:n.1231-58T>C
ENST00000644545.1:c.1231-58T>C	ENSP00000493992.1:n.1231-58T>C
ENST00000645348.1:c.*83-58T>C	ENSP00000495363.1:n.*83-58T>C
ENST00000645558.1:c.899-58T>C
ENST00000646311.1:c.*351-58T>C	ENSP00000493465.1:n.*351-58T>C
ENST00000646727.1:c.*85-58T>C	ENSP00000493519.1:n.*85-58T>C
ENST00000647129.1:c.1108-58T>C	ENSP00000496137.1:n.1108-58T>C
XM_011531965.1:c.325-58T>C	XP_011530267.1:n.325-58T>C
XM_011531966.1:c.-15-58T>C	XP_011530268.1:n.-15-58T>C
XM_017008203.1:c.868-58T>C	XP_016863692.1:n.868-58T>C
XM_017008204.2:c.583-58T>C	XP_016863693.1:n.583-58T>C
XM_024454048.1:c.1156-58T>C	XP_024309816.1:n.1156-58T>C
XM_024454049.1:c.868-58T>C	XP_024309817.1:n.868-58T>C