Canonical Allele Identifier: CA446330085
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721024A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385332A>T , CM000667.2:g.132385332A>T GRCh38
NC_000005.9:g.131721024A>T , CM000667.1:g.131721024A>T GRCh37
NC_000005.8:g.131748923A>T NCBI36
NG_008982.1:g.20624A>T
NG_008982.2:g.20629A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1018A>T ENSP00000388838.2:n.665+1018A>T
ENST00000435065.7:c.729A>T ENSP00000402760.2:p.Thr243=
ENST00000448810.6:c.657A>T ENSP00000401860.2:p.Thr219=
ENST00000686757.1:c.676A>T ENSP00000510721.1:p.Arg226Ter
ENST00000687740.1:n.1817A>T
ENST00000688151.1:n.1849A>T
ENST00000689271.1:c.671+1012A>T ENSP00000510797.1:n.671+1012A>T
ENST00000690900.1:c.672-44A>T ENSP00000510703.1:n.672-44A>T
ENST00000692212.1:n.483A>T
ENST00000692355.1:c.204+1031A>T
ENST00000692413.1:c.676A>T ENSP00000509374.1:p.Arg226Ter
ENST00000692825.1:c.725A>T ENSP00000509447.1:n.725A>T
ENST00000693308.1:c.670A>T ENSP00000509770.1:p.Arg224Ter
ENST00000693763.1:n.1817A>T
ENST00000245407.8:c.657A>T MANE Select ENSP00000245407.3:p.Thr219=
ENST00000245407.7:c.657A>T ENSP00000245407.3:p.Thr219=
ENST00000415928.5:c.426A>T ENSP00000388838.1:p.Thr142=
ENST00000435065.6:c.729A>T ENSP00000402760.2:p.Thr243=
ENST00000437841.6:c.398A>T ENSP00000400553.1:p.Gln133Leu
ENST00000448810.5:c.5A>T
ENST00000461013.5:n.8079A>T
NM_001308122.1:c.729A>T NP_001295051.1:p.Thr243=
NM_003060.3:c.657A>T NP_003051.1:p.Thr219=
XM_011543590.1:c.39A>T XP_011541892.1:p.Thr13=
XR_427718.1:n.1017A>T
XR_948290.1:n.998A>T
XR_948291.1:n.1011A>T
XM_011543590.2:c.39A>T XP_011541892.1:p.Thr13=
XM_017009778.2:c.129A>T XP_016865267.1:p.Thr43=
XR_001742215.1:n.998A>T
XR_001742216.1:n.1017A>T
XR_427718.2:n.1017A>T
XR_948290.2:n.998A>T
XR_948291.2:n.1011A>T
NM_003060.4:c.657A>T MANE Select NP_003051.1:p.Thr219=
NM_001308122.2:c.729A>T NP_001295051.1:p.Thr243=