Canonical Allele Identifier: CA15868629
Gene: SLC5A11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.24887651C>A , CM000678.2:g.24887651C>A GRCh38
NC_000016.9:g.24898972C>A , CM000678.1:g.24898972C>A GRCh37
NC_000016.8:g.24806473C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001352248.3:c.665-3218C>A MANE Select NP_001339177.1:n.665-3218C>A
ENST00000424767.7:c.665-3218C>A MANE Select ENSP00000416782.3:n.665-3218C>A
NM_001258411.2:c.560-3218C>A NP_001245340.1:n.560-3218C>A
NM_001258411.3:c.560-3218C>A NP_001245340.1:n.560-3218C>A
NM_001258412.2:c.455-3218C>A NP_001245341.1:n.455-3218C>A
NM_001258412.3:c.455-3218C>A NP_001245341.1:n.455-3218C>A
NM_001258413.2:c.473-3218C>A NP_001245342.1:n.473-3218C>A
NM_001258413.3:c.473-3218C>A NP_001245342.1:n.473-3218C>A
NM_001258414.1:c.472+3520C>A NP_001245343.1:n.472+3520C>A
NM_001258414.2:c.472+3520C>A NP_001245343.1:n.472+3520C>A
NM_001352235.1:c.626-3218C>A NP_001339164.1:n.626-3218C>A
NM_001352235.2:c.626-3218C>A NP_001339164.1:n.626-3218C>A
NM_001352236.1:c.473-3218C>A NP_001339165.1:n.473-3218C>A
NM_001352236.2:c.473-3218C>A NP_001339165.1:n.473-3218C>A
NM_001352237.1:c.368-3218C>A NP_001339166.1:n.368-3218C>A
NM_001352237.2:c.368-3218C>A NP_001339166.1:n.368-3218C>A
NM_001352238.1:c.560-3218C>A NP_001339167.1:n.560-3218C>A
NM_001352238.2:c.560-3218C>A NP_001339167.1:n.560-3218C>A
NM_001352242.1:c.665-3218C>A NP_001339171.1:n.665-3218C>A
NM_001352242.2:c.665-3218C>A NP_001339171.1:n.665-3218C>A
NM_001352245.1:c.664+3520C>A NP_001339174.1:n.664+3520C>A
NM_001352245.2:c.664+3520C>A NP_001339174.1:n.664+3520C>A
NM_001352246.1:c.664+3520C>A NP_001339175.1:n.664+3520C>A
NM_001352246.2:c.664+3520C>A NP_001339175.1:n.664+3520C>A
NM_001352247.1:c.559+3520C>A NP_001339176.1:n.559+3520C>A
NM_001352247.2:c.559+3520C>A NP_001339176.1:n.559+3520C>A
NM_001352248.1:c.665-3218C>A NP_001339177.1:n.665-3218C>A
NM_001352248.2:c.665-3218C>A NP_001339177.1:n.665-3218C>A
NM_001352249.1:c.473-3218C>A NP_001339178.1:n.473-3218C>A
NM_001352249.2:c.473-3218C>A NP_001339178.1:n.473-3218C>A
NM_001352250.1:c.584-3218C>A NP_001339179.1:n.584-3218C>A
NM_001352250.2:c.584-3218C>A NP_001339179.1:n.584-3218C>A
NM_001352259.1:c.473-3218C>A NP_001339188.1:n.473-3218C>A
NM_001352259.2:c.473-3218C>A NP_001339188.1:n.473-3218C>A
NM_001394076.1:c.584-3218C>A NP_001381005.1:n.584-3218C>A
NM_001394077.1:c.479-3218C>A NP_001381006.1:n.479-3218C>A
NM_001394078.1:c.368-3218C>A NP_001381007.1:n.368-3218C>A
NM_001394079.1:c.335-3218C>A NP_001381008.1:n.335-3218C>A
NM_001394080.1:c.583+10288C>A NP_001381009.1:n.583+10288C>A
NM_052944.4:c.665-3218C>A NP_443176.2:n.665-3218C>A
NR_147933.1:n.941-3218C>A
NR_147933.2:n.841-3218C>A
NR_147934.1:n.1046-3218C>A
NR_147934.2:n.946-3218C>A
NR_147935.1:n.986-3218C>A
NR_147935.2:n.1018-3218C>A
NR_147936.1:n.887-3218C>A
NR_147936.2:n.787-3218C>A
NR_147938.1:n.1129-3218C>A
NR_147938.2:n.1161-3218C>A
NR_147939.1:n.1281-3218C>A
NR_147939.2:n.1181-3218C>A
NR_147940.1:n.806-3218C>A
NR_147940.2:n.706-3218C>A
NR_172075.1:n.1253-3218C>A
NR_172076.1:n.942-3218C>A
NR_172077.1:n.1089-3218C>A
ENST00000347898.7:c.665-3218C>A ENSP00000289932.3:n.665-3218C>A
ENST00000424767.6:c.560-3218C>A ENSP00000416782.2:n.560-3218C>A
ENST00000449109.6:c.472+3520C>A ENSP00000389606.2:n.472+3520C>A
ENST00000488922.6:c.*677-3218C>A ENSP00000458806.1:n.*677-3218C>A
ENST00000545376.5:c.455-3218C>A ENSP00000441384.1:n.455-3218C>A
ENST00000545376.6:c.*677-3218C>A ENSP00000441384.2:n.*677-3218C>A
ENST00000565586.1:n.342-3218C>A
ENST00000565769.5:c.473-3218C>A ENSP00000457179.1:n.473-3218C>A
ENST00000567758.5:c.560-3218C>A ENSP00000454401.1:n.560-3218C>A
ENST00000567758.6:c.560-3218C>A ENSP00000454401.1:n.560-3218C>A
ENST00000568579.5:c.455-3218C>A ENSP00000456234.1:n.455-3218C>A
ENST00000568579.6:c.455-3218C>A ENSP00000456234.1:n.455-3218C>A
ENST00000569071.1:c.472+3520C>A ENSP00000456376.1:n.472+3520C>A
ENST00000569071.2:c.472+3520C>A ENSP00000456376.1:n.472+3520C>A
XM_005255080.2:c.665-3218C>A XP_005255137.1:n.665-3218C>A
XM_005255082.3:c.182-3218C>A XP_005255139.1:n.182-3218C>A
XM_005255082.4:c.182-3218C>A XP_005255139.1:n.182-3218C>A
XM_006721015.1:c.368-3218C>A XP_006721078.1:n.368-3218C>A
XM_011545723.1:c.704-3218C>A XP_011544025.1:n.704-3218C>A
XM_011545724.1:c.626-3218C>A XP_011544026.1:n.626-3218C>A
XM_011545725.1:c.599-3218C>A XP_011544027.1:n.599-3218C>A
XM_011545725.2:c.521-3218C>A XP_011544027.2:n.521-3218C>A
XM_011545726.1:c.703+3520C>A XP_011544028.1:n.703+3520C>A
XM_011545727.1:c.182-3218C>A XP_011544029.1:n.182-3218C>A
XM_011545728.1:c.-61+3520C>A XP_011544030.1:n.-61+3520C>A
XM_017022903.1:c.665-3218C>A XP_016878392.1:n.665-3218C>A
XM_024450145.1:c.182-3218C>A XP_024305913.1:n.182-3218C>A
XM_024450146.1:c.181+3520C>A XP_024305914.1:n.181+3520C>A