Canonical Allele Identifier: CA1583144794
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385485C= , CM000667.2:g.132385485C= GRCh38
NC_000005.9:g.131721177C= , CM000667.1:g.131721177C= GRCh37
NC_000005.8:g.131749076C= NCBI36
NG_008982.1:g.20777C=
NG_008982.2:g.20782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1171C= ENSP00000388838.2:n.665+1171C=
ENST00000435065.7:c.882C= ENSP00000402760.2:p.Cys294=
ENST00000448810.6:c.810C= ENSP00000401860.2:p.Cys270=
ENST00000686757.1:c.829C= ENSP00000510721.1:p.Arg277=
ENST00000687740.1:n.1970C=
ENST00000688151.1:n.2002C=
ENST00000689271.1:c.671+1165C= ENSP00000510797.1:n.671+1165C=
ENST00000690900.1:c.781C= ENSP00000510703.1:p.Arg261=
ENST00000692212.1:n.636C=
ENST00000692355.1:c.204+1184C=
ENST00000692413.1:c.829C= ENSP00000509374.1:p.Arg277=
ENST00000692825.1:c.878C= ENSP00000509447.1:n.878C=
ENST00000693308.1:c.823C= ENSP00000509770.1:p.Arg275=
ENST00000693763.1:n.1970C=
ENST00000245407.8:c.810C= MANE Select ENSP00000245407.3:p.Cys270=
ENST00000245407.7:c.810C= ENSP00000245407.3:p.Cys270=
ENST00000415928.5:c.579C= ENSP00000388838.1:p.Cys193=
ENST00000435065.6:c.882C= ENSP00000402760.2:p.Cys294=
ENST00000437841.6:c.*125C= ENSP00000400553.1:n.*125C=
ENST00000448810.5:c.158C=
ENST00000461013.5:n.8232C=
NM_001308122.1:c.882C= NP_001295051.1:p.Cys294=
NM_003060.3:c.810C= NP_003051.1:p.Cys270=
XM_011543590.1:c.192C= XP_011541892.1:p.Cys64=
XR_427718.1:n.1170C=
XR_948290.1:n.1151C=
XR_948291.1:n.1164C=
XM_011543590.2:c.192C= XP_011541892.1:p.Cys64=
XM_017009778.2:c.282C= XP_016865267.1:p.Cys94=
XR_001742215.1:n.1151C=
XR_001742216.1:n.1170C=
XR_427718.2:n.1170C=
XR_948290.2:n.1151C=
XR_948291.2:n.1164C=
NM_003060.4:c.810C= MANE Select NP_003051.1:p.Cys270=
NM_001308122.2:c.882C= NP_001295051.1:p.Cys294=