Canonical Allele Identifier: CA1583150265
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390883T= , CM000667.2:g.132390883T= GRCh38
NC_000005.9:g.131726575T= , CM000667.1:g.131726575T= GRCh37
NC_000005.8:g.131754474T= NCBI36
NG_008982.1:g.26175T=
NG_008982.2:g.26180T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1087T= ENSP00000388838.2:p.Phe363=
ENST00000435065.7:c.1318T= ENSP00000402760.2:p.Phe440=
ENST00000448810.6:c.*98T= ENSP00000401860.2:n.*98T=
ENST00000685543.1:n.1387T=
ENST00000686757.1:c.*410T= ENSP00000510721.1:n.*410T=
ENST00000687740.1:n.3931T=
ENST00000688151.1:n.2556T=
ENST00000689271.1:c.1093T= ENSP00000510797.1:p.Phe365=
ENST00000690900.1:c.*410T= ENSP00000510703.1:n.*410T=
ENST00000692212.1:n.2858T=
ENST00000692355.1:c.499T=
ENST00000692413.1:c.1228T= ENSP00000509374.1:p.Phe410=
ENST00000692825.1:c.1314T= ENSP00000509447.1:n.1314T=
ENST00000693308.1:c.1294T= ENSP00000509770.1:p.Phe432=
ENST00000693763.1:n.2406T=
ENST00000245407.8:c.1246T= MANE Select ENSP00000245407.3:p.Phe416=
ENST00000245407.7:c.1246T= ENSP00000245407.3:p.Phe416=
ENST00000435065.6:c.1318T= ENSP00000402760.2:p.Phe440=
ENST00000447841.5:c.112-1550T=
ENST00000448810.5:c.508T=
ENST00000461013.5:n.8668T=
ENST00000475308.1:n.1924T=
ENST00000479605.5:n.349T=
NM_001308122.1:c.1318T= NP_001295051.1:p.Phe440=
NM_003060.3:c.1246T= NP_003051.1:p.Phe416=
XM_011543590.1:c.628T= XP_011541892.1:p.Phe210=
XR_427718.1:n.1606T=
XR_948290.1:n.1394-1550T=
XR_948291.1:n.1600T=
XM_011543590.2:c.628T= XP_011541892.1:p.Phe210=
XM_017009778.2:c.718T= XP_016865267.1:p.Phe240=
XR_001742215.1:n.1501T=
XR_001742216.1:n.1520T=
XR_427718.2:n.1606T=
XR_948290.2:n.1394-1550T=
XR_948291.2:n.1600T=
NM_003060.4:c.1246T= MANE Select NP_003051.1:p.Phe416=
NM_001308122.2:c.1318T= NP_001295051.1:p.Phe440=