Canonical Allele Identifier: CA360807809
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717034
ClinVar RCV Id: RCV002296223

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390875T>C , CM000667.2:g.132390875T>C GRCh38
NC_000005.9:g.131726567T>C , CM000667.1:g.131726567T>C GRCh37
NC_000005.8:g.131754466T>C NCBI36
NG_008982.1:g.26167T>C
NG_008982.2:g.26172T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1079T>C ENSP00000388838.2:p.Val360Ala
ENST00000435065.7:c.1310T>C ENSP00000402760.2:p.Val437Ala
ENST00000448810.6:c.*90T>C ENSP00000401860.2:n.*90T>C
ENST00000685543.1:n.1379T>C
ENST00000686757.1:c.*402T>C ENSP00000510721.1:n.*402T>C
ENST00000687740.1:n.3923T>C
ENST00000688151.1:n.2548T>C
ENST00000689271.1:c.1085T>C ENSP00000510797.1:p.Val362Ala
ENST00000690900.1:c.*402T>C ENSP00000510703.1:n.*402T>C
ENST00000692212.1:n.2850T>C
ENST00000692355.1:c.491T>C
ENST00000692413.1:c.1220T>C ENSP00000509374.1:p.Val407Ala
ENST00000692825.1:c.1306T>C ENSP00000509447.1:n.1306T>C
ENST00000693308.1:c.1286T>C ENSP00000509770.1:p.Val429Ala
ENST00000693763.1:n.2398T>C
ENST00000245407.8:c.1238T>C MANE Select ENSP00000245407.3:p.Val413Ala
ENST00000245407.7:c.1238T>C ENSP00000245407.3:p.Val413Ala
ENST00000435065.6:c.1310T>C ENSP00000402760.2:p.Val437Ala
ENST00000447841.5:c.112-1558T>C
ENST00000448810.5:c.500T>C
ENST00000461013.5:n.8660T>C
ENST00000475308.1:n.1916T>C
ENST00000479605.5:n.341T>C
NM_001308122.1:c.1310T>C NP_001295051.1:p.Val437Ala
NM_003060.3:c.1238T>C NP_003051.1:p.Val413Ala
XM_011543590.1:c.620T>C XP_011541892.1:p.Val207Ala
XR_427718.1:n.1598T>C
XR_948290.1:n.1394-1558T>C
XR_948291.1:n.1592T>C
XM_011543590.2:c.620T>C XP_011541892.1:p.Val207Ala
XM_017009778.2:c.710T>C XP_016865267.1:p.Val237Ala
XR_001742215.1:n.1493T>C
XR_001742216.1:n.1512T>C
XR_427718.2:n.1598T>C
XR_948290.2:n.1394-1558T>C
XR_948291.2:n.1592T>C
NM_003060.4:c.1238T>C MANE Select NP_003051.1:p.Val413Ala
NM_001308122.2:c.1310T>C NP_001295051.1:p.Val437Ala