Canonical Allele Identifier: CA360807793
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390868G>C , CM000667.2:g.132390868G>C GRCh38
NC_000005.9:g.131726560G>C , CM000667.1:g.131726560G>C GRCh37
NC_000005.8:g.131754459G>C NCBI36
NG_008982.1:g.26160G>C
NG_008982.2:g.26165G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1072G>C ENSP00000388838.2:p.Gly358Arg
ENST00000435065.7:c.1303G>C ENSP00000402760.2:p.Gly435Arg
ENST00000448810.6:c.*83G>C ENSP00000401860.2:n.*83G>C
ENST00000685543.1:n.1372G>C
ENST00000686757.1:c.*395G>C ENSP00000510721.1:n.*395G>C
ENST00000687740.1:n.3916G>C
ENST00000688151.1:n.2541G>C
ENST00000689271.1:c.1078G>C ENSP00000510797.1:p.Gly360Arg
ENST00000690900.1:c.*395G>C ENSP00000510703.1:n.*395G>C
ENST00000692212.1:n.2843G>C
ENST00000692355.1:c.484G>C
ENST00000692413.1:c.1213G>C ENSP00000509374.1:p.Gly405Arg
ENST00000692825.1:c.1299G>C ENSP00000509447.1:n.1299G>C
ENST00000693308.1:c.1279G>C ENSP00000509770.1:p.Gly427Arg
ENST00000693763.1:n.2391G>C
ENST00000245407.8:c.1231G>C MANE Select ENSP00000245407.3:p.Gly411Arg
ENST00000245407.7:c.1231G>C ENSP00000245407.3:p.Gly411Arg
ENST00000435065.6:c.1303G>C ENSP00000402760.2:p.Gly435Arg
ENST00000447841.5:c.112-1565G>C
ENST00000448810.5:c.493G>C
ENST00000461013.5:n.8653G>C
ENST00000475308.1:n.1909G>C
ENST00000479605.5:n.334G>C
NM_001308122.1:c.1303G>C NP_001295051.1:p.Gly435Arg
NM_003060.3:c.1231G>C NP_003051.1:p.Gly411Arg
XM_011543590.1:c.613G>C XP_011541892.1:p.Gly205Arg
XR_427718.1:n.1591G>C
XR_948290.1:n.1394-1565G>C
XR_948291.1:n.1585G>C
XM_011543590.2:c.613G>C XP_011541892.1:p.Gly205Arg
XM_017009778.2:c.703G>C XP_016865267.1:p.Gly235Arg
XR_001742215.1:n.1486G>C
XR_001742216.1:n.1505G>C
XR_427718.2:n.1591G>C
XR_948290.2:n.1394-1565G>C
XR_948291.2:n.1585G>C
NM_003060.4:c.1231G>C MANE Select NP_003051.1:p.Gly411Arg
NM_001308122.2:c.1303G>C NP_001295051.1:p.Gly435Arg