Canonical Allele Identifier: CA3027290

Gene: MANBA

Linked Data

• dbSNP Id: rs121434335
• ExAC: 4:103647771 C / T
• gnomAD v2: 4-103647771-C-T
• gnomAD v4: 4-102726614-C-T
• MyVariant Identifiers: chr4:g.103647771C>T (hg19) ; chr4:g.102726614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102726614C>T , CM000666.2:g.102726614C>T	GRCh38
NC_000004.11:g.103647771C>T , CM000666.1:g.103647771C>T	GRCh37
NC_000004.10:g.103866815C>T	NCBI36
NG_012804.1:g.39381G>A
NG_012804.2:g.39381G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642252.1:c.247G>A	ENSP00000495483.1:p.Glu83Lys
ENST00000644159.1:c.247G>A	ENSP00000494462.1:p.Glu83Lys
ENST00000644545.1:c.247G>A	ENSP00000493992.1:p.Glu83Lys
ENST00000644965.1:c.*178-2647G>A	ENSP00000495818.1:n.*178-2647G>A
ENST00000645348.1:c.247G>A	ENSP00000495363.1:p.Glu83Lys
ENST00000646311.1:c.247G>A	ENSP00000493465.1:p.Glu83Lys
ENST00000646451.1:c.172G>A	ENSP00000495846.1:p.Glu58Lys
ENST00000646727.1:c.247G>A	ENSP00000493519.1:p.Glu83Lys
ENST00000647097.2:c.247G>A MANE Select	ENSP00000495247.1:p.Glu83Lys
ENST00000226578.8:c.247G>A	ENSP00000226578.4:p.Glu83Lys
ENST00000505239.1:c.247G>A	ENSP00000427322.1:p.Glu83Lys
ENST00000511813.1:c.*213G>A	ENSP00000422001.1:n.*213G>A
ENST00000514430.5:n.294G>A
NM_005908.3:c.247G>A	NP_005899.3:p.Glu83Lys
XM_017008203.1:c.-117G>A	XP_016863692.1:n.-117G>A
XM_017008204.2:c.-278G>A	XP_016863693.1:n.-278G>A
XM_024454048.1:c.172G>A	XP_024309816.1:p.Glu58Lys
XM_024454049.1:c.-117G>A	XP_024309817.1:n.-117G>A
NM_005908.4:c.247G>A MANE Select	NP_005899.3:p.Glu83Lys