Canonical Allele Identifier: CA1583146109
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387025G= , CM000667.2:g.132387025G= GRCh38
NC_000005.9:g.131722717G= , CM000667.1:g.131722717G= GRCh37
NC_000005.8:g.131750616G= NCBI36
NG_008982.1:g.22317G=
NG_008982.2:g.22322G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.666G= ENSP00000388838.2:p.Arg222=
ENST00000435065.7:c.897G= ENSP00000402760.2:p.Trp299=
ENST00000448810.6:c.825G= ENSP00000401860.2:p.Trp275=
ENST00000686757.1:c.844G= ENSP00000510721.1:p.Val282=
ENST00000687740.1:n.3510G=
ENST00000688151.1:n.2135G=
ENST00000689271.1:c.672G= ENSP00000510797.1:p.Glu224=
ENST00000690900.1:c.796G= ENSP00000510703.1:p.Val266=
ENST00000692212.1:n.769G=
ENST00000692355.1:c.205-1896G=
ENST00000692413.1:c.844-37G= ENSP00000509374.1:n.844-37G=
ENST00000692825.1:c.893G= ENSP00000509447.1:n.893G=
ENST00000693308.1:c.873G= ENSP00000509770.1:p.Arg291=
ENST00000693763.1:n.1985G=
ENST00000245407.8:c.825G= MANE Select ENSP00000245407.3:p.Trp275=
ENST00000245407.7:c.825G= ENSP00000245407.3:p.Trp275=
ENST00000415928.5:c.594G= ENSP00000388838.1:p.Trp198=
ENST00000435065.6:c.897G= ENSP00000402760.2:p.Trp299=
ENST00000437841.6:c.*140G= ENSP00000400553.1:n.*140G=
ENST00000448810.5:c.173G=
ENST00000461013.5:n.8247G=
NM_001308122.1:c.897G= NP_001295051.1:p.Trp299=
NM_003060.3:c.825G= NP_003051.1:p.Trp275=
XM_011543590.1:c.207G= XP_011541892.1:p.Trp69=
XR_427718.1:n.1185G=
XR_948290.1:n.1166G=
XR_948291.1:n.1179G=
XM_011543590.2:c.207G= XP_011541892.1:p.Trp69=
XM_017009778.2:c.297G= XP_016865267.1:p.Trp99=
XR_001742215.1:n.1166G=
XR_001742216.1:n.1185G=
XR_427718.2:n.1185G=
XR_948290.2:n.1166G=
XR_948291.2:n.1179G=
NM_003060.4:c.825G= MANE Select NP_003051.1:p.Trp275=
NM_001308122.2:c.897G= NP_001295051.1:p.Trp299=