Canonical Allele Identifier: CA457015141
Gene: SLC26A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.103014951A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103374504A>G , CM000669.2:g.103374504A>G GRCh38
NC_000007.13:g.103014951A>G , CM000669.1:g.103014951A>G GRCh37
NC_000007.12:g.102802187A>G NCBI36
NG_023055.1:g.76674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000306312.8:c.2130T>C MANE Select ENSP00000304783.3:p.Val710=
ENST00000306312.7:c.2130T>C ENSP00000304783.3:p.Val710=
ENST00000339444.10:c.2041+2304T>C ENSP00000342396.6:n.2041+2304T>C
ENST00000354356.8:c.2136T>C ENSP00000346325.5:p.Val712=
ENST00000356767.8:c.972-21578T>C ENSP00000349210.4:n.972-21578T>C
ENST00000393723.2:c.2040T>C ENSP00000377324.1:p.Val680=
ENST00000393727.5:c.2136T>C ENSP00000377328.1:p.Val712=
ENST00000393729.5:c.2019T>C ENSP00000377330.1:p.Val673=
ENST00000393730.5:c.2034T>C ENSP00000377331.1:p.Val678=
ENST00000393735.6:c.1514+14504T>C ENSP00000377336.2:n.1514+14504T>C
ENST00000423416.5:c.*542T>C ENSP00000389018.1:n.*542T>C
ENST00000432958.6:c.2034T>C ENSP00000389733.2:p.Val678=
ENST00000445809.5:c.*1113T>C ENSP00000396833.1:n.*1113T>C
ENST00000454864.5:c.*434T>C ENSP00000416502.1:n.*434T>C
ENST00000456463.5:c.*1331T>C ENSP00000395568.1:n.*1331T>C
NM_001167962.1:c.2034T>C NP_001161434.1:p.Val678=
NM_198999.2:c.2130T>C NP_945350.1:p.Val710=
NM_206883.2:c.2041+2304T>C NP_996766.1:n.2041+2304T>C
NM_206884.2:c.1514+14504T>C NP_996767.1:n.1514+14504T>C
NM_206885.2:c.972-21578T>C NP_996768.1:n.972-21578T>C
NR_120441.1:n.2146T>C
NR_120442.1:n.2042T>C
NR_120443.1:n.1960T>C
XM_011516170.1:c.2130T>C XP_011514472.1:p.Val710=
NM_001321787.1:c.1945+2304T>C NP_001308716.1:n.1945+2304T>C
NR_135801.1:n.2148T>C
NR_135802.1:n.2137+2304T>C
XM_011516170.3:c.2130T>C XP_011514472.1:p.Val710=
XR_001744725.2:n.2322T>C
XR_001744726.1:n.3023+2304T>C
XR_001744727.2:n.2226T>C
NM_001321787.2:c.1945+2304T>C NP_001308716.1:n.1945+2304T>C
NM_198999.3:c.2130T>C MANE Select NP_945350.1:p.Val710=
NM_206883.3:c.2041+2304T>C NP_996766.1:n.2041+2304T>C
NM_206884.3:c.1514+14504T>C NP_996767.1:n.1514+14504T>C
NM_206885.3:c.972-21578T>C NP_996768.1:n.972-21578T>C
NR_135802.2:n.2167+2304T>C
NM_001167962.2:c.2034T>C NP_001161434.1:p.Val678=
NR_135801.2:n.2178T>C