Canonical Allele Identifier: CA357769709
Community Standard Title: NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102690714G>C , CM000666.2:g.102690714G>C GRCh38
NC_000004.11:g.103611871G>C , CM000666.1:g.103611871G>C GRCh37
NC_000004.10:g.103830919G>C NCBI36
NG_012804.1:g.75281C>G
NG_012804.2:g.75281C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.731C>G MANE Select NP_005899.3:p.Ser244Ter
ENST00000647097.2:c.731C>G MANE Select ENSP00000495247.1:p.Ser244Ter
NM_005908.3:c.731C>G NP_005899.3:p.Ser244Ter
ENST00000226578.8:c.731C>G ENSP00000226578.4:p.Ser244Ter
ENST00000505239.1:c.560C>G ENSP00000427322.1:p.Ser187Ter
ENST00000514430.5:n.856C>G
ENST00000642252.1:c.731C>G ENSP00000495483.1:p.Ser244Ter
ENST00000644159.1:c.731C>G ENSP00000494462.1:p.Ser244Ter
ENST00000644545.1:c.731C>G ENSP00000493992.1:p.Ser244Ter
ENST00000645348.1:c.731C>G ENSP00000495363.1:p.Ser244Ter
ENST00000645558.1:c.237C>G
ENST00000646311.1:c.731C>G ENSP00000493465.1:p.Ser244Ter
ENST00000646727.1:c.731C>G ENSP00000493519.1:p.Ser244Ter
ENST00000647129.1:c.413C>G ENSP00000496137.1:p.Ser138Ter
XM_011531965.1:c.-176C>G XP_011530267.1:n.-176C>G
XM_017008203.1:c.368C>G XP_016863692.1:p.Ser123Ter
XM_017008204.2:c.83C>G XP_016863693.1:p.Ser28Ter
XM_024454048.1:c.656C>G XP_024309816.1:p.Ser219Ter
XM_024454049.1:c.368C>G XP_024309817.1:p.Ser123Ter