Canonical Allele Identifier: CA2346475518
Community Standard Title: NM_001174089.2(SLC4A11):c.1765C= (p.Arg589=)
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3229430G= , CM000682.2:g.3229430G= GRCh38
NC_000020.10:g.3210076G= , CM000682.1:g.3210076G= GRCh37
NC_000020.9:g.3158076G= NCBI36
NG_017072.1:g.14812C=
NG_012093.2:g.25564G=

Transcript Alleles

HGVS Amino-acid Change
NM_001174089.2:c.1765C= MANE Select NP_001167560.1:p.Arg589=
ENST00000642402.1:c.1765C= MANE Select ENSP00000493503.1:p.Arg589=
NM_001174089.1:c.1765C= NP_001167560.1:p.Arg589=
NM_001174090.1:c.1894C= NP_001167561.1:p.Arg632=
NM_001174090.2:c.1894C= NP_001167561.1:p.Arg632=
NM_001363745.1:c.1651C= NP_001350674.1:p.Arg551=
NM_001363745.2:c.1651C= NP_001350674.1:p.Arg551=
NM_001400277.1:c.1708C= NP_001387206.1:p.Arg570=
NM_001400278.1:c.1708C= NP_001387207.1:p.Arg570=
NM_001400279.1:c.1708C= NP_001387208.1:p.Arg570=
NM_001400280.1:c.1780C= NP_001387209.1:p.Arg594=
NM_032034.3:c.1813C= NP_114423.1:p.Arg605=
NM_032034.4:c.1813C= NP_114423.1:p.Arg605=
NR_135000.1:n.1863C=
NR_174470.1:n.2338C=
NR_174471.1:n.2323C=
ENST00000380056.7:c.1813C= ENSP00000369396.3:p.Arg605=
ENST00000380059.7:c.1894C= ENSP00000369399.3:p.Arg632=
ENST00000474451.5:c.1638C= ENSP00000476859.1:p.Cys546=
ENST00000488544.1:n.276C=
ENST00000539553.6:c.1765C= ENSP00000441370.1:p.Arg589=
ENST00000644011.1:c.1696C= ENSP00000496214.1:p.Arg566=
ENST00000644692.1:c.1636C= ENSP00000493824.1:p.Arg546=
ENST00000647296.1:c.1651C= ENSP00000495050.1:p.Arg551=
XM_005260856.3:c.2134C= XP_005260913.1:p.Arg712=
XM_005260856.5:c.2134C= XP_005260913.1:p.Arg712=
XM_005260857.1:c.1708C= XP_005260914.1:p.Arg570=
XM_011529383.1:c.1732C= XP_011527685.1:p.Arg578=
XM_011529383.3:c.1732C= XP_011527685.1:p.Arg578=
XM_011529384.1:c.1708C= XP_011527686.1:p.Arg570=
XM_011529385.1:c.1708C= XP_011527687.1:p.Arg570=
XM_011529386.1:c.2178C= XP_011527688.1:p.Cys726=
XM_017028093.1:c.2178C= XP_016883582.1:p.Cys726=
XM_017028094.1:c.1708C= XP_016883583.1:p.Arg570=
XM_017028096.1:c.1708C= XP_016883585.1:p.Arg570=
XR_001754419.1:n.2358C=
XR_001754420.2:n.2288C=
XR_937167.1:n.1863C=