Canonical Allele Identifier: CA2346476086
Community Standard Title: NM_001174089.2(SLC4A11):c.1415G= (p.Arg472=)
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3230515C= , CM000682.2:g.3230515C= GRCh38
NC_000020.10:g.3211161C= , CM000682.1:g.3211161C= GRCh37
NC_000020.9:g.3159161C= NCBI36
NG_017072.1:g.13727G=

Transcript Alleles

HGVS Amino-acid Change
NM_001174089.2:c.1415G= MANE Select NP_001167560.1:p.Arg472=
ENST00000642402.1:c.1415G= MANE Select ENSP00000493503.1:p.Arg472=
NM_001174089.1:c.1415G= NP_001167560.1:p.Arg472=
NM_001174090.1:c.1544G= NP_001167561.1:p.Arg515=
NM_001174090.2:c.1544G= NP_001167561.1:p.Arg515=
NM_001363745.1:c.1301G= NP_001350674.1:p.Arg434=
NM_001363745.2:c.1301G= NP_001350674.1:p.Arg434=
NM_001400277.1:c.1358G= NP_001387206.1:p.Arg453=
NM_001400278.1:c.1358G= NP_001387207.1:p.Arg453=
NM_001400279.1:c.1358G= NP_001387208.1:p.Arg453=
NM_001400280.1:c.1430G= NP_001387209.1:p.Arg477=
NM_032034.3:c.1463G= NP_114423.1:p.Arg488=
NM_032034.4:c.1463G= NP_114423.1:p.Arg488=
NR_135000.1:n.1583G=
NR_174470.1:n.1973G=
NR_174471.1:n.1973G=
ENST00000380056.7:c.1463G= ENSP00000369396.3:p.Arg488=
ENST00000380059.7:c.1544G= ENSP00000369399.3:p.Arg515=
ENST00000470631.1:n.46G=
ENST00000474451.5:c.1358G= ENSP00000476859.1:p.Arg453=
ENST00000539553.6:c.1415G= ENSP00000441370.1:p.Arg472=
ENST00000644011.1:c.1346G= ENSP00000496214.1:p.Arg449=
ENST00000644692.1:c.1286G= ENSP00000493824.1:p.Arg429=
ENST00000647296.1:c.1301G= ENSP00000495050.1:p.Arg434=
XM_005260856.3:c.1784G= XP_005260913.1:p.Arg595=
XM_005260856.5:c.1784G= XP_005260913.1:p.Arg595=
XM_005260857.1:c.1358G= XP_005260914.1:p.Arg453=
XM_011529383.1:c.1382G= XP_011527685.1:p.Arg461=
XM_011529383.3:c.1382G= XP_011527685.1:p.Arg461=
XM_011529384.1:c.1358G= XP_011527686.1:p.Arg453=
XM_011529385.1:c.1358G= XP_011527687.1:p.Arg453=
XM_011529386.1:c.1898G= XP_011527688.1:p.Arg633=
XM_017028093.1:c.1898G= XP_016883582.1:p.Arg633=
XM_017028094.1:c.1358G= XP_016883583.1:p.Arg453=
XM_017028096.1:c.1358G= XP_016883585.1:p.Arg453=
XR_001754419.1:n.2008G=
XR_001754420.2:n.2008G=
XR_937167.1:n.1583G=