Canonical Allele Identifier: CA368749592

Gene: SLC26A5

Linked Data

• MyVariant Identifiers: chr7:g.103014915C>G (hg19) ; chr7:g.103374468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103374468C>G , CM000669.2:g.103374468C>G	GRCh38
NC_000007.13:g.103014915C>G , CM000669.1:g.103014915C>G	GRCh37
NC_000007.12:g.102802151C>G	NCBI36
NG_023055.1:g.76710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306312.8:c.2166G>C MANE Select	ENSP00000304783.3:p.Gln722His
ENST00000306312.7:c.2166G>C	ENSP00000304783.3:p.Gln722His
ENST00000339444.10:c.2041+2340G>C	ENSP00000342396.6:n.2041+2340G>C
ENST00000354356.8:c.2172G>C	ENSP00000346325.5:p.Gln724His
ENST00000356767.8:c.972-21542G>C	ENSP00000349210.4:n.972-21542G>C
ENST00000393723.2:c.2076G>C	ENSP00000377324.1:p.Gln692His
ENST00000393727.5:c.2172G>C	ENSP00000377328.1:p.Gln724His
ENST00000393729.5:c.2055G>C	ENSP00000377330.1:p.Gln685His
ENST00000393730.5:c.2070G>C	ENSP00000377331.1:p.Gln690His
ENST00000393735.6:c.1514+14540G>C	ENSP00000377336.2:n.1514+14540G>C
ENST00000423416.5:c.*578G>C	ENSP00000389018.1:n.*578G>C
ENST00000432958.6:c.2070G>C	ENSP00000389733.2:p.Gln690His
ENST00000445809.5:c.*1149G>C	ENSP00000396833.1:n.*1149G>C
ENST00000454864.5:c.*470G>C	ENSP00000416502.1:n.*470G>C
ENST00000456463.5:c.*1367G>C	ENSP00000395568.1:n.*1367G>C
NM_001167962.1:c.2070G>C	NP_001161434.1:p.Gln690His
NM_198999.2:c.2166G>C	NP_945350.1:p.Gln722His
NM_206883.2:c.2041+2340G>C	NP_996766.1:n.2041+2340G>C
NM_206884.2:c.1514+14540G>C	NP_996767.1:n.1514+14540G>C
NM_206885.2:c.972-21542G>C	NP_996768.1:n.972-21542G>C
NR_120441.1:n.2182G>C
NR_120442.1:n.2078G>C
NR_120443.1:n.1996G>C
XM_011516170.1:c.2166G>C	XP_011514472.1:p.Gln722His
NM_001321787.1:c.1945+2340G>C	NP_001308716.1:n.1945+2340G>C
NR_135801.1:n.2184G>C
NR_135802.1:n.2137+2340G>C
XM_011516170.3:c.2166G>C	XP_011514472.1:p.Gln722His
XR_001744725.2:n.2358G>C
XR_001744726.1:n.3023+2340G>C
XR_001744727.2:n.2262G>C
NM_001321787.2:c.1945+2340G>C	NP_001308716.1:n.1945+2340G>C
NM_198999.3:c.2166G>C MANE Select	NP_945350.1:p.Gln722His
NM_206883.3:c.2041+2340G>C	NP_996766.1:n.2041+2340G>C
NM_206884.3:c.1514+14540G>C	NP_996767.1:n.1514+14540G>C
NM_206885.3:c.972-21542G>C	NP_996768.1:n.972-21542G>C
NR_135802.2:n.2167+2340G>C
NM_001167962.2:c.2070G>C	NP_001161434.1:p.Gln690His
NR_135801.2:n.2214G>C