Canonical Allele Identifier: CA368749753
Gene: SLC26A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103374541A>C , CM000669.2:g.103374541A>C GRCh38
NC_000007.13:g.103014988A>C , CM000669.1:g.103014988A>C GRCh37
NC_000007.12:g.102802224A>C NCBI36
NG_023055.1:g.76637T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000306312.8:c.2093T>G MANE Select ENSP00000304783.3:p.Leu698Arg
ENST00000306312.7:c.2093T>G ENSP00000304783.3:p.Leu698Arg
ENST00000339444.10:c.2041+2267T>G ENSP00000342396.6:n.2041+2267T>G
ENST00000354356.8:c.2099T>G ENSP00000346325.5:p.Leu700Arg
ENST00000356767.8:c.972-21615T>G ENSP00000349210.4:n.972-21615T>G
ENST00000393723.2:c.2003T>G ENSP00000377324.1:p.Leu668Arg
ENST00000393727.5:c.2099T>G ENSP00000377328.1:p.Leu700Arg
ENST00000393729.5:c.1982T>G ENSP00000377330.1:p.Leu661Arg
ENST00000393730.5:c.1997T>G ENSP00000377331.1:p.Leu666Arg
ENST00000393735.6:c.1514+14467T>G ENSP00000377336.2:n.1514+14467T>G
ENST00000423416.5:c.*505T>G ENSP00000389018.1:n.*505T>G
ENST00000432958.6:c.1997T>G ENSP00000389733.2:p.Leu666Arg
ENST00000445809.5:c.*1076T>G ENSP00000396833.1:n.*1076T>G
ENST00000454864.5:c.*397T>G ENSP00000416502.1:n.*397T>G
ENST00000456463.5:c.*1294T>G ENSP00000395568.1:n.*1294T>G
NM_001167962.1:c.1997T>G NP_001161434.1:p.Leu666Arg
NM_198999.2:c.2093T>G NP_945350.1:p.Leu698Arg
NM_206883.2:c.2041+2267T>G NP_996766.1:n.2041+2267T>G
NM_206884.2:c.1514+14467T>G NP_996767.1:n.1514+14467T>G
NM_206885.2:c.972-21615T>G NP_996768.1:n.972-21615T>G
NR_120441.1:n.2109T>G
NR_120442.1:n.2005T>G
NR_120443.1:n.1923T>G
XM_011516170.1:c.2093T>G XP_011514472.1:p.Leu698Arg
NM_001321787.1:c.1945+2267T>G NP_001308716.1:n.1945+2267T>G
NR_135801.1:n.2111T>G
NR_135802.1:n.2137+2267T>G
XM_011516170.3:c.2093T>G XP_011514472.1:p.Leu698Arg
XR_001744725.2:n.2285T>G
XR_001744726.1:n.3023+2267T>G
XR_001744727.2:n.2189T>G
NM_001321787.2:c.1945+2267T>G NP_001308716.1:n.1945+2267T>G
NM_198999.3:c.2093T>G MANE Select NP_945350.1:p.Leu698Arg
NM_206883.3:c.2041+2267T>G NP_996766.1:n.2041+2267T>G
NM_206884.3:c.1514+14467T>G NP_996767.1:n.1514+14467T>G
NM_206885.3:c.972-21615T>G NP_996768.1:n.972-21615T>G
NR_135802.2:n.2167+2267T>G
NM_001167962.2:c.1997T>G NP_001161434.1:p.Leu666Arg
NR_135801.2:n.2141T>G