Canonical Allele Identifier: CA368749652

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014942G>T (hg19) ; chr7:g.103374495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374495G>T , CM000669.2:g.103374495G>T	GRCh38
NC_000007.13:g.103014942G>T , CM000669.1:g.103014942G>T	GRCh37
NC_000007.12:g.102802178G>T	NCBI36
NG_023055.1:g.76683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2139C>A MANE Select	ENSP00000304783.3:p.Ser713Arg
ENST00000306312.7:c.2139C>A	ENSP00000304783.3:p.Ser713Arg
ENST00000339444.10:c.2041+2313C>A	ENSP00000342396.6:n.2041+2313C>A
ENST00000354356.8:c.2145C>A	ENSP00000346325.5:p.Ser715Arg
ENST00000356767.8:c.972-21569C>A	ENSP00000349210.4:n.972-21569C>A
ENST00000393723.2:c.2049C>A	ENSP00000377324.1:p.Ser683Arg
ENST00000393727.5:c.2145C>A	ENSP00000377328.1:p.Ser715Arg
ENST00000393729.5:c.2028C>A	ENSP00000377330.1:p.Ser676Arg
ENST00000393730.5:c.2043C>A	ENSP00000377331.1:p.Ser681Arg
ENST00000393735.6:c.1514+14513C>A	ENSP00000377336.2:n.1514+14513C>A
ENST00000423416.5:c.*551C>A	ENSP00000389018.1:n.*551C>A
ENST00000432958.6:c.2043C>A	ENSP00000389733.2:p.Ser681Arg
ENST00000445809.5:c.*1122C>A	ENSP00000396833.1:n.*1122C>A
ENST00000454864.5:c.*443C>A	ENSP00000416502.1:n.*443C>A
ENST00000456463.5:c.*1340C>A	ENSP00000395568.1:n.*1340C>A
NM_001167962.1:c.2043C>A	NP_001161434.1:p.Ser681Arg
NM_198999.2:c.2139C>A	NP_945350.1:p.Ser713Arg
NM_206883.2:c.2041+2313C>A	NP_996766.1:n.2041+2313C>A
NM_206884.2:c.1514+14513C>A	NP_996767.1:n.1514+14513C>A
NM_206885.2:c.972-21569C>A	NP_996768.1:n.972-21569C>A
NR_120441.1:n.2155C>A
NR_120442.1:n.2051C>A
NR_120443.1:n.1969C>A
XM_011516170.1:c.2139C>A	XP_011514472.1:p.Ser713Arg
NM_001321787.1:c.1945+2313C>A	NP_001308716.1:n.1945+2313C>A
NR_135801.1:n.2157C>A
NR_135802.1:n.2137+2313C>A
XM_011516170.3:c.2139C>A	XP_011514472.1:p.Ser713Arg
XR_001744725.2:n.2331C>A
XR_001744726.1:n.3023+2313C>A
XR_001744727.2:n.2235C>A
NM_001321787.2:c.1945+2313C>A	NP_001308716.1:n.1945+2313C>A
NM_198999.3:c.2139C>A MANE Select	NP_945350.1:p.Ser713Arg
NM_206883.3:c.2041+2313C>A	NP_996766.1:n.2041+2313C>A
NM_206884.3:c.1514+14513C>A	NP_996767.1:n.1514+14513C>A
NM_206885.3:c.972-21569C>A	NP_996768.1:n.972-21569C>A
NR_135802.2:n.2167+2313C>A
NM_001167962.2:c.2043C>A	NP_001161434.1:p.Ser681Arg
NR_135801.2:n.2187C>A