Canonical Allele Identifier: CA1583144672
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385438G= , CM000667.2:g.132385438G= GRCh38
NC_000005.9:g.131721130G= , CM000667.1:g.131721130G= GRCh37
NC_000005.8:g.131749029G= NCBI36
NG_008982.1:g.20730G=
NG_008982.2:g.20735G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1124G= ENSP00000388838.2:n.665+1124G=
ENST00000435065.7:c.835G= ENSP00000402760.2:p.Asp279=
ENST00000448810.6:c.763G= ENSP00000401860.2:p.Asp255=
ENST00000686757.1:c.782G= ENSP00000510721.1:p.Arg261=
ENST00000687740.1:n.1923G=
ENST00000688151.1:n.1955G=
ENST00000689271.1:c.671+1118G= ENSP00000510797.1:n.671+1118G=
ENST00000690900.1:c.734G= ENSP00000510703.1:p.Arg245=
ENST00000692212.1:n.589G=
ENST00000692355.1:c.204+1137G=
ENST00000692413.1:c.782G= ENSP00000509374.1:p.Arg261=
ENST00000692825.1:c.831G= ENSP00000509447.1:n.831G=
ENST00000693308.1:c.776G= ENSP00000509770.1:p.Arg259=
ENST00000693763.1:n.1923G=
ENST00000245407.8:c.763G= MANE Select ENSP00000245407.3:p.Asp255=
ENST00000245407.7:c.763G= ENSP00000245407.3:p.Asp255=
ENST00000415928.5:c.532G= ENSP00000388838.1:p.Asp178=
ENST00000435065.6:c.835G= ENSP00000402760.2:p.Asp279=
ENST00000437841.6:c.*78G= ENSP00000400553.1:n.*78G=
ENST00000448810.5:c.111G=
ENST00000461013.5:n.8185G=
NM_001308122.1:c.835G= NP_001295051.1:p.Asp279=
NM_003060.3:c.763G= NP_003051.1:p.Asp255=
XM_011543590.1:c.145G= XP_011541892.1:p.Asp49=
XR_427718.1:n.1123G=
XR_948290.1:n.1104G=
XR_948291.1:n.1117G=
XM_011543590.2:c.145G= XP_011541892.1:p.Asp49=
XM_017009778.2:c.235G= XP_016865267.1:p.Asp79=
XR_001742215.1:n.1104G=
XR_001742216.1:n.1123G=
XR_427718.2:n.1123G=
XR_948290.2:n.1104G=
XR_948291.2:n.1117G=
NM_003060.4:c.763G= MANE Select NP_003051.1:p.Asp255=
NM_001308122.2:c.835G= NP_001295051.1:p.Asp279=