Canonical Allele Identifier: CA368749613

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014926G>A (hg19) ; chr7:g.103374479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374479G>A , CM000669.2:g.103374479G>A	GRCh38
NC_000007.13:g.103014926G>A , CM000669.1:g.103014926G>A	GRCh37
NC_000007.12:g.102802162G>A	NCBI36
NG_023055.1:g.76699C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2155C>T MANE Select	ENSP00000304783.3:p.Leu719Phe
ENST00000306312.7:c.2155C>T	ENSP00000304783.3:p.Leu719Phe
ENST00000339444.10:c.2041+2329C>T	ENSP00000342396.6:n.2041+2329C>T
ENST00000354356.8:c.2161C>T	ENSP00000346325.5:p.Leu721Phe
ENST00000356767.8:c.972-21553C>T	ENSP00000349210.4:n.972-21553C>T
ENST00000393723.2:c.2065C>T	ENSP00000377324.1:p.Leu689Phe
ENST00000393727.5:c.2161C>T	ENSP00000377328.1:p.Leu721Phe
ENST00000393729.5:c.2044C>T	ENSP00000377330.1:p.Leu682Phe
ENST00000393730.5:c.2059C>T	ENSP00000377331.1:p.Leu687Phe
ENST00000393735.6:c.1514+14529C>T	ENSP00000377336.2:n.1514+14529C>T
ENST00000423416.5:c.*567C>T	ENSP00000389018.1:n.*567C>T
ENST00000432958.6:c.2059C>T	ENSP00000389733.2:p.Leu687Phe
ENST00000445809.5:c.*1138C>T	ENSP00000396833.1:n.*1138C>T
ENST00000454864.5:c.*459C>T	ENSP00000416502.1:n.*459C>T
ENST00000456463.5:c.*1356C>T	ENSP00000395568.1:n.*1356C>T
NM_001167962.1:c.2059C>T	NP_001161434.1:p.Leu687Phe
NM_198999.2:c.2155C>T	NP_945350.1:p.Leu719Phe
NM_206883.2:c.2041+2329C>T	NP_996766.1:n.2041+2329C>T
NM_206884.2:c.1514+14529C>T	NP_996767.1:n.1514+14529C>T
NM_206885.2:c.972-21553C>T	NP_996768.1:n.972-21553C>T
NR_120441.1:n.2171C>T
NR_120442.1:n.2067C>T
NR_120443.1:n.1985C>T
XM_011516170.1:c.2155C>T	XP_011514472.1:p.Leu719Phe
NM_001321787.1:c.1945+2329C>T	NP_001308716.1:n.1945+2329C>T
NR_135801.1:n.2173C>T
NR_135802.1:n.2137+2329C>T
XM_011516170.3:c.2155C>T	XP_011514472.1:p.Leu719Phe
XR_001744725.2:n.2347C>T
XR_001744726.1:n.3023+2329C>T
XR_001744727.2:n.2251C>T
NM_001321787.2:c.1945+2329C>T	NP_001308716.1:n.1945+2329C>T
NM_198999.3:c.2155C>T MANE Select	NP_945350.1:p.Leu719Phe
NM_206883.3:c.2041+2329C>T	NP_996766.1:n.2041+2329C>T
NM_206884.3:c.1514+14529C>T	NP_996767.1:n.1514+14529C>T
NM_206885.3:c.972-21553C>T	NP_996768.1:n.972-21553C>T
NR_135802.2:n.2167+2329C>T
NM_001167962.2:c.2059C>T	NP_001161434.1:p.Leu687Phe
NR_135801.2:n.2203C>T