Canonical Allele Identifier: CA457015116

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014927T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374480T>A , CM000669.2:g.103374480T>A	GRCh38
NC_000007.13:g.103014927T>A , CM000669.1:g.103014927T>A	GRCh37
NC_000007.12:g.102802163T>A	NCBI36
NG_023055.1:g.76698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2154A>T MANE Select	ENSP00000304783.3:p.Ala718=
ENST00000306312.7:c.2154A>T	ENSP00000304783.3:p.Ala718=
ENST00000339444.10:c.2041+2328A>T	ENSP00000342396.6:n.2041+2328A>T
ENST00000354356.8:c.2160A>T	ENSP00000346325.5:p.Ala720=
ENST00000356767.8:c.972-21554A>T	ENSP00000349210.4:n.972-21554A>T
ENST00000393723.2:c.2064A>T	ENSP00000377324.1:p.Ala688=
ENST00000393727.5:c.2160A>T	ENSP00000377328.1:p.Ala720=
ENST00000393729.5:c.2043A>T	ENSP00000377330.1:p.Ala681=
ENST00000393730.5:c.2058A>T	ENSP00000377331.1:p.Ala686=
ENST00000393735.6:c.1514+14528A>T	ENSP00000377336.2:n.1514+14528A>T
ENST00000423416.5:c.*566A>T	ENSP00000389018.1:n.*566A>T
ENST00000432958.6:c.2058A>T	ENSP00000389733.2:p.Ala686=
ENST00000445809.5:c.*1137A>T	ENSP00000396833.1:n.*1137A>T
ENST00000454864.5:c.*458A>T	ENSP00000416502.1:n.*458A>T
ENST00000456463.5:c.*1355A>T	ENSP00000395568.1:n.*1355A>T
NM_001167962.1:c.2058A>T	NP_001161434.1:p.Ala686=
NM_198999.2:c.2154A>T	NP_945350.1:p.Ala718=
NM_206883.2:c.2041+2328A>T	NP_996766.1:n.2041+2328A>T
NM_206884.2:c.1514+14528A>T	NP_996767.1:n.1514+14528A>T
NM_206885.2:c.972-21554A>T	NP_996768.1:n.972-21554A>T
NR_120441.1:n.2170A>T
NR_120442.1:n.2066A>T
NR_120443.1:n.1984A>T
XM_011516170.1:c.2154A>T	XP_011514472.1:p.Ala718=
NM_001321787.1:c.1945+2328A>T	NP_001308716.1:n.1945+2328A>T
NR_135801.1:n.2172A>T
NR_135802.1:n.2137+2328A>T
XM_011516170.3:c.2154A>T	XP_011514472.1:p.Ala718=
XR_001744725.2:n.2346A>T
XR_001744726.1:n.3023+2328A>T
XR_001744727.2:n.2250A>T
NM_001321787.2:c.1945+2328A>T	NP_001308716.1:n.1945+2328A>T
NM_198999.3:c.2154A>T MANE Select	NP_945350.1:p.Ala718=
NM_206883.3:c.2041+2328A>T	NP_996766.1:n.2041+2328A>T
NM_206884.3:c.1514+14528A>T	NP_996767.1:n.1514+14528A>T
NM_206885.3:c.972-21554A>T	NP_996768.1:n.972-21554A>T
NR_135802.2:n.2167+2328A>T
NM_001167962.2:c.2058A>T	NP_001161434.1:p.Ala686=
NR_135801.2:n.2202A>T