Canonical Allele Identifier: CA3027113

Gene: MANBA

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102690688C>T , CM000666.2:g.102690688C>T	GRCh38
NC_000004.11:g.103611845C>T , CM000666.1:g.103611845C>T	GRCh37
NC_000004.10:g.103830893C>T	NCBI36
NG_012804.1:g.75307G>A
NG_012804.2:g.75307G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642252.1:c.757G>A	ENSP00000495483.1:p.Val253Ile
ENST00000644159.1:c.757G>A	ENSP00000494462.1:p.Val253Ile
ENST00000644545.1:c.757G>A	ENSP00000493992.1:p.Val253Ile
ENST00000645348.1:c.757G>A	ENSP00000495363.1:p.Val253Ile
ENST00000645558.1:c.263G>A
ENST00000646311.1:c.757G>A	ENSP00000493465.1:p.Val253Ile
ENST00000646727.1:c.757G>A	ENSP00000493519.1:p.Val253Ile
ENST00000647097.2:c.757G>A MANE Select	ENSP00000495247.1:p.Val253Ile
ENST00000647129.1:c.439G>A	ENSP00000496137.1:p.Val147Ile
ENST00000226578.8:c.757G>A	ENSP00000226578.4:p.Val253Ile
ENST00000505239.1:c.586G>A	ENSP00000427322.1:p.Val196Ile
ENST00000514430.5:n.882G>A
NM_005908.3:c.757G>A	NP_005899.3:p.Val253Ile
XM_011531965.1:c.-150G>A	XP_011530267.1:n.-150G>A
XM_017008203.1:c.394G>A	XP_016863692.1:p.Val132Ile
XM_017008204.2:c.109G>A	XP_016863693.1:p.Val37Ile
XM_024454048.1:c.682G>A	XP_024309816.1:p.Val228Ile
XM_024454049.1:c.394G>A	XP_024309817.1:p.Val132Ile
NM_005908.4:c.757G>A MANE Select	NP_005899.3:p.Val253Ile