Canonical Allele Identifier: CA360807768
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390854C>T , CM000667.2:g.132390854C>T GRCh38
NC_000005.9:g.131726546C>T , CM000667.1:g.131726546C>T GRCh37
NC_000005.8:g.131754445C>T NCBI36
NG_008982.1:g.26146C>T
NG_008982.2:g.26151C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1058C>T ENSP00000388838.2:p.Ala353Val
ENST00000435065.7:c.1289C>T ENSP00000402760.2:p.Ala430Val
ENST00000448810.6:c.*69C>T ENSP00000401860.2:n.*69C>T
ENST00000685543.1:n.1358C>T
ENST00000686757.1:c.*381C>T ENSP00000510721.1:n.*381C>T
ENST00000687740.1:n.3902C>T
ENST00000688151.1:n.2527C>T
ENST00000689271.1:c.1064C>T ENSP00000510797.1:p.Ala355Val
ENST00000690900.1:c.*381C>T ENSP00000510703.1:n.*381C>T
ENST00000692212.1:n.2829C>T
ENST00000692355.1:c.470C>T
ENST00000692413.1:c.1199C>T ENSP00000509374.1:p.Ala400Val
ENST00000692825.1:c.1285C>T ENSP00000509447.1:n.1285C>T
ENST00000693308.1:c.1265C>T ENSP00000509770.1:p.Ala422Val
ENST00000693763.1:n.2377C>T
ENST00000245407.8:c.1217C>T MANE Select ENSP00000245407.3:p.Ala406Val
ENST00000245407.7:c.1217C>T ENSP00000245407.3:p.Ala406Val
ENST00000435065.6:c.1289C>T ENSP00000402760.2:p.Ala430Val
ENST00000447841.5:c.112-1579C>T
ENST00000448810.5:c.479C>T
ENST00000461013.5:n.8639C>T
ENST00000475308.1:n.1895C>T
ENST00000479605.5:n.320C>T
NM_001308122.1:c.1289C>T NP_001295051.1:p.Ala430Val
NM_003060.3:c.1217C>T NP_003051.1:p.Ala406Val
XM_011543590.1:c.599C>T XP_011541892.1:p.Ala200Val
XR_427718.1:n.1577C>T
XR_948290.1:n.1394-1579C>T
XR_948291.1:n.1571C>T
XM_011543590.2:c.599C>T XP_011541892.1:p.Ala200Val
XM_017009778.2:c.689C>T XP_016865267.1:p.Ala230Val
XR_001742215.1:n.1472C>T
XR_001742216.1:n.1491C>T
XR_427718.2:n.1577C>T
XR_948290.2:n.1394-1579C>T
XR_948291.2:n.1571C>T
NM_003060.4:c.1217C>T MANE Select NP_003051.1:p.Ala406Val
NM_001308122.2:c.1289C>T NP_001295051.1:p.Ala430Val