Canonical Allele Identifier: CA368749653

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014943C>A (hg19) ; chr7:g.103374496C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374496C>A , CM000669.2:g.103374496C>A	GRCh38
NC_000007.13:g.103014943C>A , CM000669.1:g.103014943C>A	GRCh37
NC_000007.12:g.102802179C>A	NCBI36
NG_023055.1:g.76682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2138G>T MANE Select	ENSP00000304783.3:p.Ser713Ile
ENST00000306312.7:c.2138G>T	ENSP00000304783.3:p.Ser713Ile
ENST00000339444.10:c.2041+2312G>T	ENSP00000342396.6:n.2041+2312G>T
ENST00000354356.8:c.2144G>T	ENSP00000346325.5:p.Ser715Ile
ENST00000356767.8:c.972-21570G>T	ENSP00000349210.4:n.972-21570G>T
ENST00000393723.2:c.2048G>T	ENSP00000377324.1:p.Ser683Ile
ENST00000393727.5:c.2144G>T	ENSP00000377328.1:p.Ser715Ile
ENST00000393729.5:c.2027G>T	ENSP00000377330.1:p.Ser676Ile
ENST00000393730.5:c.2042G>T	ENSP00000377331.1:p.Ser681Ile
ENST00000393735.6:c.1514+14512G>T	ENSP00000377336.2:n.1514+14512G>T
ENST00000423416.5:c.*550G>T	ENSP00000389018.1:n.*550G>T
ENST00000432958.6:c.2042G>T	ENSP00000389733.2:p.Ser681Ile
ENST00000445809.5:c.*1121G>T	ENSP00000396833.1:n.*1121G>T
ENST00000454864.5:c.*442G>T	ENSP00000416502.1:n.*442G>T
ENST00000456463.5:c.*1339G>T	ENSP00000395568.1:n.*1339G>T
NM_001167962.1:c.2042G>T	NP_001161434.1:p.Ser681Ile
NM_198999.2:c.2138G>T	NP_945350.1:p.Ser713Ile
NM_206883.2:c.2041+2312G>T	NP_996766.1:n.2041+2312G>T
NM_206884.2:c.1514+14512G>T	NP_996767.1:n.1514+14512G>T
NM_206885.2:c.972-21570G>T	NP_996768.1:n.972-21570G>T
NR_120441.1:n.2154G>T
NR_120442.1:n.2050G>T
NR_120443.1:n.1968G>T
XM_011516170.1:c.2138G>T	XP_011514472.1:p.Ser713Ile
NM_001321787.1:c.1945+2312G>T	NP_001308716.1:n.1945+2312G>T
NR_135801.1:n.2156G>T
NR_135802.1:n.2137+2312G>T
XM_011516170.3:c.2138G>T	XP_011514472.1:p.Ser713Ile
XR_001744725.2:n.2330G>T
XR_001744726.1:n.3023+2312G>T
XR_001744727.2:n.2234G>T
NM_001321787.2:c.1945+2312G>T	NP_001308716.1:n.1945+2312G>T
NM_198999.3:c.2138G>T MANE Select	NP_945350.1:p.Ser713Ile
NM_206883.3:c.2041+2312G>T	NP_996766.1:n.2041+2312G>T
NM_206884.3:c.1514+14512G>T	NP_996767.1:n.1514+14512G>T
NM_206885.3:c.972-21570G>T	NP_996768.1:n.972-21570G>T
NR_135802.2:n.2167+2312G>T
NM_001167962.2:c.2042G>T	NP_001161434.1:p.Ser681Ile
NR_135801.2:n.2186G>T