Canonical Allele Identifier: CA1583146190
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387049G= , CM000667.2:g.132387049G= GRCh38
NC_000005.9:g.131722741G= , CM000667.1:g.131722741G= GRCh37
NC_000005.8:g.131750640G= NCBI36
NG_008982.1:g.22341G=
NG_008982.2:g.22346G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.690G= ENSP00000388838.2:p.Trp230=
ENST00000435065.7:c.921G= ENSP00000402760.2:p.Trp307=
ENST00000448810.6:c.849G= ENSP00000401860.2:p.Trp283=
ENST00000686757.1:c.*13G= ENSP00000510721.1:n.*13G=
ENST00000687740.1:n.3534G=
ENST00000688151.1:n.2159G=
ENST00000689271.1:c.696G= ENSP00000510797.1:p.Trp232=
ENST00000690900.1:c.*13G= ENSP00000510703.1:n.*13G=
ENST00000692212.1:n.793G=
ENST00000692355.1:c.205-1872G=
ENST00000692413.1:c.844-13G= ENSP00000509374.1:n.844-13G=
ENST00000692825.1:c.917G= ENSP00000509447.1:n.917G=
ENST00000693308.1:c.897G= ENSP00000509770.1:p.Trp299=
ENST00000693763.1:n.2009G=
ENST00000245407.8:c.849G= MANE Select ENSP00000245407.3:p.Trp283=
ENST00000245407.7:c.849G= ENSP00000245407.3:p.Trp283=
ENST00000415928.5:c.618G= ENSP00000388838.1:p.Trp206=
ENST00000435065.6:c.921G= ENSP00000402760.2:p.Trp307=
ENST00000437841.6:c.*164G= ENSP00000400553.1:n.*164G=
ENST00000448810.5:c.197G=
ENST00000461013.5:n.8271G=
NM_001308122.1:c.921G= NP_001295051.1:p.Trp307=
NM_003060.3:c.849G= NP_003051.1:p.Trp283=
XM_011543590.1:c.231G= XP_011541892.1:p.Trp77=
XR_427718.1:n.1209G=
XR_948290.1:n.1190G=
XR_948291.1:n.1203G=
XM_011543590.2:c.231G= XP_011541892.1:p.Trp77=
XM_017009778.2:c.321G= XP_016865267.1:p.Trp107=
XR_001742215.1:n.1190G=
XR_001742216.1:n.1209G=
XR_427718.2:n.1209G=
XR_948290.2:n.1190G=
XR_948291.2:n.1203G=
NM_003060.4:c.849G= MANE Select NP_003051.1:p.Trp283=
NM_001308122.2:c.921G= NP_001295051.1:p.Trp307=