Canonical Allele Identifier: CA1583144665
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385436G= , CM000667.2:g.132385436G= GRCh38
NC_000005.9:g.131721128G= , CM000667.1:g.131721128G= GRCh37
NC_000005.8:g.131749027G= NCBI36
NG_008982.1:g.20728G=
NG_008982.2:g.20733G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1122G= ENSP00000388838.2:n.665+1122G=
ENST00000435065.7:c.833G= ENSP00000402760.2:p.Arg278=
ENST00000448810.6:c.761G= ENSP00000401860.2:p.Arg254=
ENST00000686757.1:c.780G= ENSP00000510721.1:p.Pro260=
ENST00000687740.1:n.1921G=
ENST00000688151.1:n.1953G=
ENST00000689271.1:c.671+1116G= ENSP00000510797.1:n.671+1116G=
ENST00000690900.1:c.732G= ENSP00000510703.1:p.Pro244=
ENST00000692212.1:n.587G=
ENST00000692355.1:c.204+1135G=
ENST00000692413.1:c.780G= ENSP00000509374.1:p.Pro260=
ENST00000692825.1:c.829G= ENSP00000509447.1:n.829G=
ENST00000693308.1:c.774G= ENSP00000509770.1:p.Pro258=
ENST00000693763.1:n.1921G=
ENST00000245407.8:c.761G= MANE Select ENSP00000245407.3:p.Arg254=
ENST00000245407.7:c.761G= ENSP00000245407.3:p.Arg254=
ENST00000415928.5:c.530G= ENSP00000388838.1:p.Arg177=
ENST00000435065.6:c.833G= ENSP00000402760.2:p.Arg278=
ENST00000437841.6:c.*76G= ENSP00000400553.1:n.*76G=
ENST00000448810.5:c.109G=
ENST00000461013.5:n.8183G=
NM_001308122.1:c.833G= NP_001295051.1:p.Arg278=
NM_003060.3:c.761G= NP_003051.1:p.Arg254=
XM_011543590.1:c.143G= XP_011541892.1:p.Arg48=
XR_427718.1:n.1121G=
XR_948290.1:n.1102G=
XR_948291.1:n.1115G=
XM_011543590.2:c.143G= XP_011541892.1:p.Arg48=
XM_017009778.2:c.233G= XP_016865267.1:p.Arg78=
XR_001742215.1:n.1102G=
XR_001742216.1:n.1121G=
XR_427718.2:n.1121G=
XR_948290.2:n.1102G=
XR_948291.2:n.1115G=
NM_003060.4:c.761G= MANE Select NP_003051.1:p.Arg254=
NM_001308122.2:c.833G= NP_001295051.1:p.Arg278=