Canonical Allele Identifier: CA1583148188
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132388924C= , CM000667.2:g.132388924C= GRCh38
NC_000005.9:g.131724616C= , CM000667.1:g.131724616C= GRCh37
NC_000005.8:g.131752515C= NCBI36
NG_008982.1:g.24216C=
NG_008982.2:g.24221C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.796C= ENSP00000388838.2:p.Gln266=
ENST00000435065.7:c.1027C= ENSP00000402760.2:p.Gln343=
ENST00000448810.6:c.955C= ENSP00000401860.2:p.Gln319=
ENST00000685543.1:n.1096C=
ENST00000686757.1:c.*119C= ENSP00000510721.1:n.*119C=
ENST00000687740.1:n.3640C=
ENST00000688151.1:n.2265C=
ENST00000689271.1:c.802C= ENSP00000510797.1:p.Gln268=
ENST00000690900.1:c.*119C= ENSP00000510703.1:n.*119C=
ENST00000692212.1:n.899C=
ENST00000692355.1:c.208C=
ENST00000692413.1:c.937C= ENSP00000509374.1:p.Gln313=
ENST00000692825.1:c.1023C= ENSP00000509447.1:n.1023C=
ENST00000693308.1:c.1003C= ENSP00000509770.1:p.Gln335=
ENST00000693763.1:n.2115C=
ENST00000245407.8:c.955C= MANE Select ENSP00000245407.3:p.Gln319=
ENST00000245407.7:c.955C= ENSP00000245407.3:p.Gln319=
ENST00000435065.6:c.1027C= ENSP00000402760.2:p.Gln343=
ENST00000437841.6:c.*270C= ENSP00000400553.1:n.*270C=
ENST00000447841.5:c.14C=
ENST00000448810.5:c.303C=
ENST00000461013.5:n.8377C=
ENST00000479605.5:n.58C=
NM_001308122.1:c.1027C= NP_001295051.1:p.Gln343=
NM_003060.3:c.955C= NP_003051.1:p.Gln319=
XM_011543590.1:c.337C= XP_011541892.1:p.Gln113=
XR_427718.1:n.1315C=
XR_948290.1:n.1296C=
XR_948291.1:n.1309C=
XM_011543590.2:c.337C= XP_011541892.1:p.Gln113=
XM_017009778.2:c.427C= XP_016865267.1:p.Gln143=
XR_001742215.1:n.1296C=
XR_001742216.1:n.1315C=
XR_427718.2:n.1315C=
XR_948290.2:n.1296C=
XR_948291.2:n.1309C=
NM_003060.4:c.955C= MANE Select NP_003051.1:p.Gln319=
NM_001308122.2:c.1027C= NP_001295051.1:p.Gln343=