Canonical Allele Identifier: CA279613304
Gene: SLC5A11 HGNC NCBI

Linked Data

dbSNP Id: rs12926788

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.24868642C>G , CM000678.2:g.24868642C>G GRCh38
NC_000016.9:g.24879963C>G , CM000678.1:g.24879963C>G GRCh37
NC_000016.8:g.24787464C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424767.7:c.208-1259C>G MANE Select ENSP00000416782.3:n.208-1259C>G
ENST00000545376.6:c.*220-1259C>G ENSP00000441384.2:n.*220-1259C>G
ENST00000567758.6:c.208-1259C>G ENSP00000454401.1:n.208-1259C>G
ENST00000568579.6:c.208-3518C>G ENSP00000456234.1:n.208-3518C>G
ENST00000569071.2:c.16-1259C>G ENSP00000456376.1:n.16-1259C>G
ENST00000347898.7:c.208-1259C>G ENSP00000289932.3:n.208-1259C>G
ENST00000424767.6:c.208-1259C>G ENSP00000416782.2:n.208-1259C>G
ENST00000449109.6:c.16-1259C>G ENSP00000389606.2:n.16-1259C>G
ENST00000488922.6:c.*220-1259C>G ENSP00000458806.1:n.*220-1259C>G
ENST00000545376.5:c.208-3518C>G ENSP00000441384.1:n.208-3518C>G
ENST00000565769.5:c.16-1259C>G ENSP00000457179.1:n.16-1259C>G
ENST00000567758.5:c.208-1259C>G ENSP00000454401.1:n.208-1259C>G
ENST00000568579.5:c.208-3518C>G ENSP00000456234.1:n.208-3518C>G
ENST00000569071.1:c.16-1259C>G ENSP00000456376.1:n.16-1259C>G
ENST00000569520.5:c.208-1259C>G ENSP00000454732.1:n.208-1259C>G
NM_001258411.2:c.208-1259C>G NP_001245340.1:n.208-1259C>G
NM_001258412.2:c.208-3518C>G NP_001245341.1:n.208-3518C>G
NM_001258413.2:c.16-1259C>G NP_001245342.1:n.16-1259C>G
NM_001258414.1:c.16-1259C>G NP_001245343.1:n.16-1259C>G
NM_052944.4:c.208-1259C>G NP_443176.2:n.208-1259C>G
XM_005255080.2:c.208-1259C>G XP_005255137.1:n.208-1259C>G
XM_006721015.1:c.16-1259C>G XP_006721078.1:n.16-1259C>G
XM_011545723.1:c.247-1259C>G XP_011544025.1:n.247-1259C>G
XM_011545724.1:c.169-1259C>G XP_011544026.1:n.169-1259C>G
XM_011545725.1:c.247-1259C>G XP_011544027.1:n.247-1259C>G
XM_011545726.1:c.247-1259C>G XP_011544028.1:n.247-1259C>G
NM_001352235.1:c.169-1259C>G NP_001339164.1:n.169-1259C>G
NM_001352236.1:c.16-1259C>G NP_001339165.1:n.16-1259C>G
NM_001352237.1:c.16-1259C>G NP_001339166.1:n.16-1259C>G
NM_001352238.1:c.208-1259C>G NP_001339167.1:n.208-1259C>G
NM_001352242.1:c.208-1259C>G NP_001339171.1:n.208-1259C>G
NM_001352245.1:c.208-1259C>G NP_001339174.1:n.208-1259C>G
NM_001352246.1:c.208-1259C>G NP_001339175.1:n.208-1259C>G
NM_001352247.1:c.208-1259C>G NP_001339176.1:n.208-1259C>G
NM_001352248.1:c.208-1259C>G NP_001339177.1:n.208-1259C>G
NM_001352249.1:c.16-1259C>G NP_001339178.1:n.16-1259C>G
NM_001352250.1:c.208-1259C>G NP_001339179.1:n.208-1259C>G
NM_001352259.1:c.16-1259C>G NP_001339188.1:n.16-1259C>G
NR_147933.1:n.589-1259C>G
NR_147934.1:n.589-1259C>G
NR_147935.1:n.529-1259C>G
NR_147936.1:n.430-1259C>G
NR_147938.1:n.529-1259C>G
NR_147939.1:n.681-1259C>G
NR_147940.1:n.430-1259C>G
XM_011545725.2:c.169-1259C>G XP_011544027.2:n.169-1259C>G
XM_017022903.1:c.208-1259C>G XP_016878392.1:n.208-1259C>G
XM_024450145.1:c.-543-1259C>G XP_024305913.1:n.-543-1259C>G
XM_024450146.1:c.-419-1259C>G XP_024305914.1:n.-419-1259C>G
NM_001258413.3:c.16-1259C>G NP_001245342.1:n.16-1259C>G
NM_001352235.2:c.169-1259C>G NP_001339164.1:n.169-1259C>G
NM_001352236.2:c.16-1259C>G NP_001339165.1:n.16-1259C>G
NM_001352237.2:c.16-1259C>G NP_001339166.1:n.16-1259C>G
NM_001352238.2:c.208-1259C>G NP_001339167.1:n.208-1259C>G
NM_001352242.2:c.208-1259C>G NP_001339171.1:n.208-1259C>G
NM_001352245.2:c.208-1259C>G NP_001339174.1:n.208-1259C>G
NM_001352246.2:c.208-1259C>G NP_001339175.1:n.208-1259C>G
NM_001352247.2:c.208-1259C>G NP_001339176.1:n.208-1259C>G
NM_001352248.2:c.208-1259C>G NP_001339177.1:n.208-1259C>G
NM_001352249.2:c.16-1259C>G NP_001339178.1:n.16-1259C>G
NM_001352250.2:c.208-1259C>G NP_001339179.1:n.208-1259C>G
NM_001352259.2:c.16-1259C>G NP_001339188.1:n.16-1259C>G
NR_147933.2:n.489-1259C>G
NR_147934.2:n.489-1259C>G
NR_147935.2:n.561-1259C>G
NR_147936.2:n.330-1259C>G
NR_147938.2:n.561-1259C>G
NR_147939.2:n.581-1259C>G
NR_147940.2:n.330-1259C>G
NM_001258411.3:c.208-1259C>G NP_001245340.1:n.208-1259C>G
NM_001258412.3:c.208-3518C>G NP_001245341.1:n.208-3518C>G
NM_001258414.2:c.16-1259C>G NP_001245343.1:n.16-1259C>G
NM_001394076.1:c.208-1259C>G NP_001381005.1:n.208-1259C>G
NM_001394077.1:c.208-1259C>G NP_001381006.1:n.208-1259C>G
NM_001394078.1:c.16-3518C>G NP_001381007.1:n.16-3518C>G
NM_001394079.1:c.-123-1259C>G NP_001381008.1:n.-123-1259C>G
NM_001394080.1:c.208-1259C>G NP_001381009.1:n.208-1259C>G
NR_172075.1:n.653-1259C>G
NR_172076.1:n.489-1259C>G
NR_172077.1:n.489-1259C>G
NM_001352248.3:c.208-1259C>G MANE Select NP_001339177.1:n.208-1259C>G