Canonical Allele Identifier: CA368749695

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014962G>A (hg19) ; chr7:g.103374515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374515G>A , CM000669.2:g.103374515G>A	GRCh38
NC_000007.13:g.103014962G>A , CM000669.1:g.103014962G>A	GRCh37
NC_000007.12:g.102802198G>A	NCBI36
NG_023055.1:g.76663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2119C>T MANE Select	ENSP00000304783.3:p.His707Tyr
ENST00000306312.7:c.2119C>T	ENSP00000304783.3:p.His707Tyr
ENST00000339444.10:c.2041+2293C>T	ENSP00000342396.6:n.2041+2293C>T
ENST00000354356.8:c.2125C>T	ENSP00000346325.5:p.His709Tyr
ENST00000356767.8:c.972-21589C>T	ENSP00000349210.4:n.972-21589C>T
ENST00000393723.2:c.2029C>T	ENSP00000377324.1:p.His677Tyr
ENST00000393727.5:c.2125C>T	ENSP00000377328.1:p.His709Tyr
ENST00000393729.5:c.2008C>T	ENSP00000377330.1:p.His670Tyr
ENST00000393730.5:c.2023C>T	ENSP00000377331.1:p.His675Tyr
ENST00000393735.6:c.1514+14493C>T	ENSP00000377336.2:n.1514+14493C>T
ENST00000423416.5:c.*531C>T	ENSP00000389018.1:n.*531C>T
ENST00000432958.6:c.2023C>T	ENSP00000389733.2:p.His675Tyr
ENST00000445809.5:c.*1102C>T	ENSP00000396833.1:n.*1102C>T
ENST00000454864.5:c.*423C>T	ENSP00000416502.1:n.*423C>T
ENST00000456463.5:c.*1320C>T	ENSP00000395568.1:n.*1320C>T
NM_001167962.1:c.2023C>T	NP_001161434.1:p.His675Tyr
NM_198999.2:c.2119C>T	NP_945350.1:p.His707Tyr
NM_206883.2:c.2041+2293C>T	NP_996766.1:n.2041+2293C>T
NM_206884.2:c.1514+14493C>T	NP_996767.1:n.1514+14493C>T
NM_206885.2:c.972-21589C>T	NP_996768.1:n.972-21589C>T
NR_120441.1:n.2135C>T
NR_120442.1:n.2031C>T
NR_120443.1:n.1949C>T
XM_011516170.1:c.2119C>T	XP_011514472.1:p.His707Tyr
NM_001321787.1:c.1945+2293C>T	NP_001308716.1:n.1945+2293C>T
NR_135801.1:n.2137C>T
NR_135802.1:n.2137+2293C>T
XM_011516170.3:c.2119C>T	XP_011514472.1:p.His707Tyr
XR_001744725.2:n.2311C>T
XR_001744726.1:n.3023+2293C>T
XR_001744727.2:n.2215C>T
NM_001321787.2:c.1945+2293C>T	NP_001308716.1:n.1945+2293C>T
NM_198999.3:c.2119C>T MANE Select	NP_945350.1:p.His707Tyr
NM_206883.3:c.2041+2293C>T	NP_996766.1:n.2041+2293C>T
NM_206884.3:c.1514+14493C>T	NP_996767.1:n.1514+14493C>T
NM_206885.3:c.972-21589C>T	NP_996768.1:n.972-21589C>T
NR_135802.2:n.2167+2293C>T
NM_001167962.2:c.2023C>T	NP_001161434.1:p.His675Tyr
NR_135801.2:n.2167C>T