Canonical Allele Identifier: CA1583144575
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385367C= , CM000667.2:g.132385367C= GRCh38
NC_000005.9:g.131721059C= , CM000667.1:g.131721059C= GRCh37
NC_000005.8:g.131748958C= NCBI36
NG_008982.1:g.20659C=
NG_008982.2:g.20664C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1053C= ENSP00000388838.2:n.665+1053C=
ENST00000435065.7:c.764C= ENSP00000402760.2:p.Ser255=
ENST00000448810.6:c.692C= ENSP00000401860.2:p.Ser231=
ENST00000686757.1:c.711C= ENSP00000510721.1:p.Leu237=
ENST00000687740.1:n.1852C=
ENST00000688151.1:n.1884C=
ENST00000689271.1:c.671+1047C= ENSP00000510797.1:n.671+1047C=
ENST00000690900.1:c.672-9C= ENSP00000510703.1:n.672-9C=
ENST00000692212.1:n.518C=
ENST00000692355.1:c.204+1066C=
ENST00000692413.1:c.711C= ENSP00000509374.1:p.Leu237=
ENST00000692825.1:c.760C= ENSP00000509447.1:n.760C=
ENST00000693308.1:c.705C= ENSP00000509770.1:p.Leu235=
ENST00000693763.1:n.1852C=
ENST00000245407.8:c.692C= MANE Select ENSP00000245407.3:p.Ser231=
ENST00000245407.7:c.692C= ENSP00000245407.3:p.Ser231=
ENST00000415928.5:c.461C= ENSP00000388838.1:p.Ser154=
ENST00000435065.6:c.764C= ENSP00000402760.2:p.Ser255=
ENST00000437841.6:c.*7C= ENSP00000400553.1:n.*7C=
ENST00000448810.5:c.40C=
ENST00000461013.5:n.8114C=
NM_001308122.1:c.764C= NP_001295051.1:p.Ser255=
NM_003060.3:c.692C= NP_003051.1:p.Ser231=
XM_011543590.1:c.74C= XP_011541892.1:p.Ser25=
XR_427718.1:n.1052C=
XR_948290.1:n.1033C=
XR_948291.1:n.1046C=
XM_011543590.2:c.74C= XP_011541892.1:p.Ser25=
XM_017009778.2:c.164C= XP_016865267.1:p.Ser55=
XR_001742215.1:n.1033C=
XR_001742216.1:n.1052C=
XR_427718.2:n.1052C=
XR_948290.2:n.1033C=
XR_948291.2:n.1046C=
NM_003060.4:c.692C= MANE Select NP_003051.1:p.Ser231=
NM_001308122.2:c.764C= NP_001295051.1:p.Ser255=