Canonical Allele Identifier: CA368749818
Gene: SLC26A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103374571G>C , CM000669.2:g.103374571G>C GRCh38
NC_000007.13:g.103015018G>C , CM000669.1:g.103015018G>C GRCh37
NC_000007.12:g.102802254G>C NCBI36
NG_023055.1:g.76607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306312.8:c.2063C>G MANE Select ENSP00000304783.3:p.Thr688Ser
ENST00000306312.7:c.2063C>G ENSP00000304783.3:p.Thr688Ser
ENST00000339444.10:c.2041+2237C>G ENSP00000342396.6:n.2041+2237C>G
ENST00000354356.8:c.2069C>G ENSP00000346325.5:p.Thr690Ser
ENST00000356767.8:c.972-21645C>G ENSP00000349210.4:n.972-21645C>G
ENST00000393723.2:c.1973C>G ENSP00000377324.1:p.Thr658Ser
ENST00000393727.5:c.2069C>G ENSP00000377328.1:p.Thr690Ser
ENST00000393729.5:c.1952C>G ENSP00000377330.1:p.Thr651Ser
ENST00000393730.5:c.1967C>G ENSP00000377331.1:p.Thr656Ser
ENST00000393735.6:c.1514+14437C>G ENSP00000377336.2:n.1514+14437C>G
ENST00000423416.5:c.*475C>G ENSP00000389018.1:n.*475C>G
ENST00000432958.6:c.1967C>G ENSP00000389733.2:p.Thr656Ser
ENST00000445809.5:c.*1046C>G ENSP00000396833.1:n.*1046C>G
ENST00000454864.5:c.*367C>G ENSP00000416502.1:n.*367C>G
ENST00000456463.5:c.*1264C>G ENSP00000395568.1:n.*1264C>G
NM_001167962.1:c.1967C>G NP_001161434.1:p.Thr656Ser
NM_198999.2:c.2063C>G NP_945350.1:p.Thr688Ser
NM_206883.2:c.2041+2237C>G NP_996766.1:n.2041+2237C>G
NM_206884.2:c.1514+14437C>G NP_996767.1:n.1514+14437C>G
NM_206885.2:c.972-21645C>G NP_996768.1:n.972-21645C>G
NR_120441.1:n.2079C>G
NR_120442.1:n.1975C>G
NR_120443.1:n.1893C>G
XM_011516170.1:c.2063C>G XP_011514472.1:p.Thr688Ser
NM_001321787.1:c.1945+2237C>G NP_001308716.1:n.1945+2237C>G
NR_135801.1:n.2081C>G
NR_135802.1:n.2137+2237C>G
XM_011516170.3:c.2063C>G XP_011514472.1:p.Thr688Ser
XR_001744725.2:n.2255C>G
XR_001744726.1:n.3023+2237C>G
XR_001744727.2:n.2159C>G
NM_001321787.2:c.1945+2237C>G NP_001308716.1:n.1945+2237C>G
NM_198999.3:c.2063C>G MANE Select NP_945350.1:p.Thr688Ser
NM_206883.3:c.2041+2237C>G NP_996766.1:n.2041+2237C>G
NM_206884.3:c.1514+14437C>G NP_996767.1:n.1514+14437C>G
NM_206885.3:c.972-21645C>G NP_996768.1:n.972-21645C>G
NR_135802.2:n.2167+2237C>G
NM_001167962.2:c.1967C>G NP_001161434.1:p.Thr656Ser
NR_135801.2:n.2111C>G