Canonical Allele Identifier: CA408086471
Community Standard Title: NM_001174089.2(SLC4A11):c.2213C>G (p.Thr738Arg)
Gene: SLC4A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3228687G>C , CM000682.2:g.3228687G>C GRCh38
NC_000020.10:g.3209333G>C , CM000682.1:g.3209333G>C GRCh37
NC_000020.9:g.3157333G>C NCBI36
NG_017072.1:g.15555C>G
NG_012093.2:g.24821G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001174089.2:c.2213C>G MANE Select NP_001167560.1:p.Thr738Arg
ENST00000642402.1:c.2213C>G MANE Select ENSP00000493503.1:p.Thr738Arg
NM_001174089.1:c.2213C>G NP_001167560.1:p.Thr738Arg
NM_001174090.1:c.2342C>G NP_001167561.1:p.Thr781Arg
NM_001174090.2:c.2342C>G NP_001167561.1:p.Thr781Arg
NM_001363745.1:c.2099C>G NP_001350674.1:p.Thr700Arg
NM_001363745.2:c.2099C>G NP_001350674.1:p.Thr700Arg
NM_001400277.1:c.2156C>G NP_001387206.1:p.Thr719Arg
NM_001400278.1:c.2156C>G NP_001387207.1:p.Thr719Arg
NM_001400279.1:c.2156C>G NP_001387208.1:p.Thr719Arg
NM_001400280.1:c.2228C>G NP_001387209.1:p.Thr743Arg
NM_032034.3:c.2261C>G NP_114423.1:p.Thr754Arg
NM_032034.4:c.2261C>G NP_114423.1:p.Thr754Arg
NR_135000.1:n.2311C>G
NR_174470.1:n.2736C>G
NR_174471.1:n.2721C>G
ENST00000380056.7:c.2261C>G ENSP00000369396.3:p.Thr754Arg
ENST00000380059.7:c.2342C>G ENSP00000369399.3:p.Thr781Arg
ENST00000474451.5:c.*361C>G ENSP00000476859.1:n.*361C>G
ENST00000539553.6:c.2213C>G ENSP00000441370.1:p.Thr738Arg
ENST00000644011.1:c.2144C>G ENSP00000496214.1:p.Thr715Arg
ENST00000644692.1:c.2084C>G ENSP00000493824.1:p.Thr695Arg
ENST00000647296.1:c.2099C>G ENSP00000495050.1:p.Thr700Arg
XM_005260856.3:c.2582C>G XP_005260913.1:p.Thr861Arg
XM_005260856.5:c.2582C>G XP_005260913.1:p.Thr861Arg
XM_005260857.1:c.2156C>G XP_005260914.1:p.Thr719Arg
XM_011529383.1:c.2180C>G XP_011527685.1:p.Thr727Arg
XM_011529383.3:c.2180C>G XP_011527685.1:p.Thr727Arg
XM_011529384.1:c.2156C>G XP_011527686.1:p.Thr719Arg
XM_011529385.1:c.2156C>G XP_011527687.1:p.Thr719Arg
XM_017028093.1:c.2576C>G XP_016883582.1:p.Thr859Arg
XM_017028094.1:c.2156C>G XP_016883583.1:p.Thr719Arg
XM_017028096.1:c.2156C>G XP_016883585.1:p.Thr719Arg
XR_001754419.1:n.2756C>G
XR_001754420.2:n.2736C>G
XR_937167.1:n.2311C>G