Canonical Allele Identifier: CA1730703541
Gene: SLC26A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103374469T= , CM000669.2:g.103374469T= GRCh38
NC_000007.13:g.103014916T= , CM000669.1:g.103014916T= GRCh37
NC_000007.12:g.102802152T= NCBI36
NG_023055.1:g.76709A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000306312.8:c.2165A= MANE Select ENSP00000304783.3:p.Gln722=
ENST00000306312.7:c.2165A= ENSP00000304783.3:p.Gln722=
ENST00000339444.10:c.2041+2339A= ENSP00000342396.6:n.2041+2339A=
ENST00000354356.8:c.2171A= ENSP00000346325.5:p.Gln724=
ENST00000356767.8:c.972-21543A= ENSP00000349210.4:n.972-21543A=
ENST00000393723.2:c.2075A= ENSP00000377324.1:p.Gln692=
ENST00000393727.5:c.2171A= ENSP00000377328.1:p.Gln724=
ENST00000393729.5:c.2054A= ENSP00000377330.1:p.Gln685=
ENST00000393730.5:c.2069A= ENSP00000377331.1:p.Gln690=
ENST00000393735.6:c.1514+14539A= ENSP00000377336.2:n.1514+14539A=
ENST00000423416.5:c.*577A= ENSP00000389018.1:n.*577A=
ENST00000432958.6:c.2069A= ENSP00000389733.2:p.Gln690=
ENST00000445809.5:c.*1148A= ENSP00000396833.1:n.*1148A=
ENST00000454864.5:c.*469A= ENSP00000416502.1:n.*469A=
ENST00000456463.5:c.*1366A= ENSP00000395568.1:n.*1366A=
NM_001167962.1:c.2069A= NP_001161434.1:p.Gln690=
NM_198999.2:c.2165A= NP_945350.1:p.Gln722=
NM_206883.2:c.2041+2339A= NP_996766.1:n.2041+2339A=
NM_206884.2:c.1514+14539A= NP_996767.1:n.1514+14539A=
NM_206885.2:c.972-21543A= NP_996768.1:n.972-21543A=
NR_120441.1:n.2181A=
NR_120442.1:n.2077A=
NR_120443.1:n.1995A=
XM_011516170.1:c.2165A= XP_011514472.1:p.Gln722=
NM_001321787.1:c.1945+2339A= NP_001308716.1:n.1945+2339A=
NR_135801.1:n.2183A=
NR_135802.1:n.2137+2339A=
XM_011516170.3:c.2165A= XP_011514472.1:p.Gln722=
XR_001744725.2:n.2357A=
XR_001744726.1:n.3023+2339A=
XR_001744727.2:n.2261A=
NM_001321787.2:c.1945+2339A= NP_001308716.1:n.1945+2339A=
NM_198999.3:c.2165A= MANE Select NP_945350.1:p.Gln722=
NM_206883.3:c.2041+2339A= NP_996766.1:n.2041+2339A=
NM_206884.3:c.1514+14539A= NP_996767.1:n.1514+14539A=
NM_206885.3:c.972-21543A= NP_996768.1:n.972-21543A=
NR_135802.2:n.2167+2339A=
NM_001167962.2:c.2069A= NP_001161434.1:p.Gln690=
NR_135801.2:n.2213A=