Canonical Allele Identifier: CA1583149944
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390731C= , CM000667.2:g.132390731C= GRCh38
NC_000005.9:g.131726423C= , CM000667.1:g.131726423C= GRCh37
NC_000005.8:g.131754322C= NCBI36
NG_008982.1:g.26023C=
NG_008982.2:g.26028C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.935C= ENSP00000388838.2:p.Thr312=
ENST00000435065.7:c.1166C= ENSP00000402760.2:p.Thr389=
ENST00000448810.6:c.1053-45C= ENSP00000401860.2:n.1053-45C=
ENST00000685543.1:n.1235C=
ENST00000686757.1:c.*258C= ENSP00000510721.1:n.*258C=
ENST00000687740.1:n.3779C=
ENST00000688151.1:n.2404C=
ENST00000689271.1:c.941C= ENSP00000510797.1:p.Thr314=
ENST00000690900.1:c.*258C= ENSP00000510703.1:n.*258C=
ENST00000692212.1:n.2706C=
ENST00000692355.1:c.347C=
ENST00000692413.1:c.1076C= ENSP00000509374.1:p.Thr359=
ENST00000692825.1:c.1162C= ENSP00000509447.1:n.1162C=
ENST00000693308.1:c.1142C= ENSP00000509770.1:p.Thr381=
ENST00000693763.1:n.2254C=
ENST00000245407.8:c.1094C= MANE Select ENSP00000245407.3:p.Thr365=
ENST00000245407.7:c.1094C= ENSP00000245407.3:p.Thr365=
ENST00000435065.6:c.1166C= ENSP00000402760.2:p.Thr389=
ENST00000447841.5:c.112-1702C=
ENST00000448810.5:c.401-45C=
ENST00000461013.5:n.8516C=
ENST00000475308.1:n.1772C=
ENST00000479605.5:n.197C=
NM_001308122.1:c.1166C= NP_001295051.1:p.Thr389=
NM_003060.3:c.1094C= NP_003051.1:p.Thr365=
XM_011543590.1:c.476C= XP_011541892.1:p.Thr159=
XR_427718.1:n.1454C=
XR_948290.1:n.1394-1702C=
XR_948291.1:n.1448C=
XM_011543590.2:c.476C= XP_011541892.1:p.Thr159=
XM_017009778.2:c.566C= XP_016865267.1:p.Thr189=
XR_001742215.1:n.1394-45C=
XR_001742216.1:n.1413-45C=
XR_427718.2:n.1454C=
XR_948290.2:n.1394-1702C=
XR_948291.2:n.1448C=
NM_003060.4:c.1094C= MANE Select NP_003051.1:p.Thr365=
NM_001308122.2:c.1166C= NP_001295051.1:p.Thr389=