Canonical Allele Identifier: CA368749690

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014960A>C (hg19) ; chr7:g.103374513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374513A>C , CM000669.2:g.103374513A>C	GRCh38
NC_000007.13:g.103014960A>C , CM000669.1:g.103014960A>C	GRCh37
NC_000007.12:g.102802196A>C	NCBI36
NG_023055.1:g.76665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2121T>G MANE Select	ENSP00000304783.3:p.His707Gln
ENST00000306312.7:c.2121T>G	ENSP00000304783.3:p.His707Gln
ENST00000339444.10:c.2041+2295T>G	ENSP00000342396.6:n.2041+2295T>G
ENST00000354356.8:c.2127T>G	ENSP00000346325.5:p.His709Gln
ENST00000356767.8:c.972-21587T>G	ENSP00000349210.4:n.972-21587T>G
ENST00000393723.2:c.2031T>G	ENSP00000377324.1:p.His677Gln
ENST00000393727.5:c.2127T>G	ENSP00000377328.1:p.His709Gln
ENST00000393729.5:c.2010T>G	ENSP00000377330.1:p.His670Gln
ENST00000393730.5:c.2025T>G	ENSP00000377331.1:p.His675Gln
ENST00000393735.6:c.1514+14495T>G	ENSP00000377336.2:n.1514+14495T>G
ENST00000423416.5:c.*533T>G	ENSP00000389018.1:n.*533T>G
ENST00000432958.6:c.2025T>G	ENSP00000389733.2:p.His675Gln
ENST00000445809.5:c.*1104T>G	ENSP00000396833.1:n.*1104T>G
ENST00000454864.5:c.*425T>G	ENSP00000416502.1:n.*425T>G
ENST00000456463.5:c.*1322T>G	ENSP00000395568.1:n.*1322T>G
NM_001167962.1:c.2025T>G	NP_001161434.1:p.His675Gln
NM_198999.2:c.2121T>G	NP_945350.1:p.His707Gln
NM_206883.2:c.2041+2295T>G	NP_996766.1:n.2041+2295T>G
NM_206884.2:c.1514+14495T>G	NP_996767.1:n.1514+14495T>G
NM_206885.2:c.972-21587T>G	NP_996768.1:n.972-21587T>G
NR_120441.1:n.2137T>G
NR_120442.1:n.2033T>G
NR_120443.1:n.1951T>G
XM_011516170.1:c.2121T>G	XP_011514472.1:p.His707Gln
NM_001321787.1:c.1945+2295T>G	NP_001308716.1:n.1945+2295T>G
NR_135801.1:n.2139T>G
NR_135802.1:n.2137+2295T>G
XM_011516170.3:c.2121T>G	XP_011514472.1:p.His707Gln
XR_001744725.2:n.2313T>G
XR_001744726.1:n.3023+2295T>G
XR_001744727.2:n.2217T>G
NM_001321787.2:c.1945+2295T>G	NP_001308716.1:n.1945+2295T>G
NM_198999.3:c.2121T>G MANE Select	NP_945350.1:p.His707Gln
NM_206883.3:c.2041+2295T>G	NP_996766.1:n.2041+2295T>G
NM_206884.3:c.1514+14495T>G	NP_996767.1:n.1514+14495T>G
NM_206885.3:c.972-21587T>G	NP_996768.1:n.972-21587T>G
NR_135802.2:n.2167+2295T>G
NM_001167962.2:c.2025T>G	NP_001161434.1:p.His675Gln
NR_135801.2:n.2169T>G