Canonical Allele Identifier: CA360809695
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393702A>G , CM000667.2:g.132393702A>G GRCh38
NC_000005.9:g.131729394A>G , CM000667.1:g.131729394A>G GRCh37
NC_000005.8:g.131757293A>G NCBI36
NG_008982.1:g.28994A>G
NG_008982.2:g.28999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-483A>G ENSP00000388838.2:n.1292-483A>G
ENST00000435065.7:c.1549A>G ENSP00000402760.2:p.Ile517Val
ENST00000448810.6:c.*329A>G ENSP00000401860.2:n.*329A>G
ENST00000685543.1:n.1618A>G
ENST00000686757.1:c.*641A>G ENSP00000510721.1:n.*641A>G
ENST00000686868.1:n.469A>G
ENST00000687740.1:n.4162A>G
ENST00000688151.1:n.2787A>G
ENST00000689271.1:c.1324A>G ENSP00000510797.1:p.Ile442Val
ENST00000690900.1:c.*641A>G ENSP00000510703.1:n.*641A>G
ENST00000692212.1:n.4617A>G
ENST00000692355.1:c.730A>G
ENST00000692413.1:c.1459A>G ENSP00000509374.1:p.Ile487Val
ENST00000692825.1:c.1545A>G ENSP00000509447.1:n.1545A>G
ENST00000693308.1:c.1525A>G ENSP00000509770.1:p.Ile509Val
ENST00000693763.1:n.2637A>G
ENST00000245407.8:c.1477A>G MANE Select ENSP00000245407.3:p.Ile493Val
ENST00000245407.7:c.1477A>G ENSP00000245407.3:p.Ile493Val
ENST00000435065.6:c.1549A>G ENSP00000402760.2:p.Ile517Val
ENST00000447841.5:c.321A>G
ENST00000448810.5:c.739A>G
ENST00000461013.5:n.8899A>G
ENST00000475308.1:n.2155A>G
NM_001308122.1:c.1549A>G NP_001295051.1:p.Ile517Val
NM_003060.3:c.1477A>G NP_003051.1:p.Ile493Val
XM_011543590.1:c.859A>G XP_011541892.1:p.Ile287Val
XR_948290.1:n.1603A>G
XM_011543590.2:c.859A>G XP_011541892.1:p.Ile287Val
XM_017009778.2:c.949A>G XP_016865267.1:p.Ile317Val
XR_001742215.1:n.1732A>G
XR_001742216.1:n.1751A>G
XR_427718.2:n.1837A>G
XR_948290.2:n.1603A>G
XR_948291.2:n.1831A>G
NM_003060.4:c.1477A>G MANE Select NP_003051.1:p.Ile493Val
NM_001308122.2:c.1549A>G NP_001295051.1:p.Ile517Val