Canonical Allele Identifier: CA10547884
Gene: ATP2B3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153556076C>T , CM000685.2:g.153556076C>T GRCh38
NC_000023.10:g.152821534C>T , CM000685.1:g.152821534C>T GRCh37
NC_000023.9:g.152474728C>T NCBI36
NG_015896.1:g.24955C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001001344.3:c.2086C>T MANE Select NP_001001344.1:p.Arg696Cys
ENST00000263519.5:c.2086C>T MANE Select ENSP00000263519.4:p.Arg696Cys
NM_001001344.2:c.2086C>T NP_001001344.1:p.Arg696Cys
NM_001388360.1:c.2086C>T NP_001375289.1:p.Arg696Cys
NM_001388361.1:c.2086C>T NP_001375290.1:p.Arg696Cys
NM_001388362.1:c.2086C>T NP_001375291.1:p.Arg696Cys
NM_021949.3:c.2086C>T NP_068768.2:p.Arg696Cys
NM_021949.4:c.2086C>T NP_068768.2:p.Arg696Cys
ENST00000263519.4:c.2086C>T ENSP00000263519.4:p.Arg696Cys
ENST00000349466.6:c.2086C>T ENSP00000343886.2:p.Arg696Cys
ENST00000359149.7:c.2086C>T ENSP00000352062.3:p.Arg696Cys
ENST00000359149.8:c.2086C>T ENSP00000352062.3:p.Arg696Cys
ENST00000359149.9:c.2086C>T ENSP00000352062.3:p.Arg696Cys
ENST00000370186.5:c.2044C>T ENSP00000359205.1:p.Arg682Cys
ENST00000393842.5:c.2044C>T ENSP00000377425.1:p.Arg682Cys
ENST00000496610.2:c.2086C>T ENSP00000516173.1:p.Arg696Cys
ENST00000683064.1:c.2086C>T ENSP00000508126.1:p.Arg696Cys
ENST00000684004.1:n.2539C>T
ENST00000705862.1:c.2122C>T ENSP00000516174.1:p.Arg708Cys
XM_005274689.2:c.2086C>T XP_005274746.1:p.Arg696Cys
XM_005274689.3:c.2086C>T XP_005274746.1:p.Arg696Cys
XM_005274690.2:c.2086C>T XP_005274747.1:p.Arg696Cys
XM_005274690.3:c.2086C>T XP_005274747.1:p.Arg696Cys
XM_005274691.2:c.2044C>T XP_005274748.1:p.Arg682Cys
XM_005274691.3:c.2044C>T XP_005274748.1:p.Arg682Cys
XM_005274692.2:c.2086C>T XP_005274749.1:p.Arg696Cys
XM_005274692.3:c.2086C>T XP_005274749.1:p.Arg696Cys
XM_011531174.1:c.2086C>T XP_011529476.1:p.Arg696Cys
XM_011531174.2:c.2086C>T XP_011529476.1:p.Arg696Cys
XM_011531175.1:c.2086C>T XP_011529477.1:p.Arg696Cys
XM_011531176.1:c.2086C>T XP_011529478.1:p.Arg696Cys
XM_011531177.1:c.2044C>T XP_011529479.1:p.Arg682Cys
XM_011531177.2:c.2044C>T XP_011529479.1:p.Arg682Cys
XM_017029553.1:c.2122C>T XP_016885042.1:p.Arg708Cys
XM_024452386.1:c.2044C>T XP_024308154.1:p.Arg682Cys
XR_001755693.2:n.2477C>T