Canonical Allele Identifier: CA368749649

Gene: SLC26A5

Linked Data

• dbSNP Id: rs1821202335
• MyVariant Identifiers: chr7:g.103014941G>C (hg19) ; chr7:g.103374494G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374494G>C , CM000669.2:g.103374494G>C	GRCh38
NC_000007.13:g.103014941G>C , CM000669.1:g.103014941G>C	GRCh37
NC_000007.12:g.102802177G>C	NCBI36
NG_023055.1:g.76684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2140C>G MANE Select	ENSP00000304783.3:p.Gln714Glu
ENST00000306312.7:c.2140C>G	ENSP00000304783.3:p.Gln714Glu
ENST00000339444.10:c.2041+2314C>G	ENSP00000342396.6:n.2041+2314C>G
ENST00000354356.8:c.2146C>G	ENSP00000346325.5:p.Gln716Glu
ENST00000356767.8:c.972-21568C>G	ENSP00000349210.4:n.972-21568C>G
ENST00000393723.2:c.2050C>G	ENSP00000377324.1:p.Gln684Glu
ENST00000393727.5:c.2146C>G	ENSP00000377328.1:p.Gln716Glu
ENST00000393729.5:c.2029C>G	ENSP00000377330.1:p.Gln677Glu
ENST00000393730.5:c.2044C>G	ENSP00000377331.1:p.Gln682Glu
ENST00000393735.6:c.1514+14514C>G	ENSP00000377336.2:n.1514+14514C>G
ENST00000423416.5:c.*552C>G	ENSP00000389018.1:n.*552C>G
ENST00000432958.6:c.2044C>G	ENSP00000389733.2:p.Gln682Glu
ENST00000445809.5:c.*1123C>G	ENSP00000396833.1:n.*1123C>G
ENST00000454864.5:c.*444C>G	ENSP00000416502.1:n.*444C>G
ENST00000456463.5:c.*1341C>G	ENSP00000395568.1:n.*1341C>G
NM_001167962.1:c.2044C>G	NP_001161434.1:p.Gln682Glu
NM_198999.2:c.2140C>G	NP_945350.1:p.Gln714Glu
NM_206883.2:c.2041+2314C>G	NP_996766.1:n.2041+2314C>G
NM_206884.2:c.1514+14514C>G	NP_996767.1:n.1514+14514C>G
NM_206885.2:c.972-21568C>G	NP_996768.1:n.972-21568C>G
NR_120441.1:n.2156C>G
NR_120442.1:n.2052C>G
NR_120443.1:n.1970C>G
XM_011516170.1:c.2140C>G	XP_011514472.1:p.Gln714Glu
NM_001321787.1:c.1945+2314C>G	NP_001308716.1:n.1945+2314C>G
NR_135801.1:n.2158C>G
NR_135802.1:n.2137+2314C>G
XM_011516170.3:c.2140C>G	XP_011514472.1:p.Gln714Glu
XR_001744725.2:n.2332C>G
XR_001744726.1:n.3023+2314C>G
XR_001744727.2:n.2236C>G
NM_001321787.2:c.1945+2314C>G	NP_001308716.1:n.1945+2314C>G
NM_198999.3:c.2140C>G MANE Select	NP_945350.1:p.Gln714Glu
NM_206883.3:c.2041+2314C>G	NP_996766.1:n.2041+2314C>G
NM_206884.3:c.1514+14514C>G	NP_996767.1:n.1514+14514C>G
NM_206885.3:c.972-21568C>G	NP_996768.1:n.972-21568C>G
NR_135802.2:n.2167+2314C>G
NM_001167962.2:c.2044C>G	NP_001161434.1:p.Gln682Glu
NR_135801.2:n.2188C>G