Canonical Allele Identifier: CA360807804
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs1369964976

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390874G>A , CM000667.2:g.132390874G>A GRCh38
NC_000005.9:g.131726566G>A , CM000667.1:g.131726566G>A GRCh37
NC_000005.8:g.131754465G>A NCBI36
NG_008982.1:g.26166G>A
NG_008982.2:g.26171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1078G>A ENSP00000388838.2:p.Val360Ile
ENST00000435065.7:c.1309G>A ENSP00000402760.2:p.Val437Ile
ENST00000448810.6:c.*89G>A ENSP00000401860.2:n.*89G>A
ENST00000685543.1:n.1378G>A
ENST00000686757.1:c.*401G>A ENSP00000510721.1:n.*401G>A
ENST00000687740.1:n.3922G>A
ENST00000688151.1:n.2547G>A
ENST00000689271.1:c.1084G>A ENSP00000510797.1:p.Val362Ile
ENST00000690900.1:c.*401G>A ENSP00000510703.1:n.*401G>A
ENST00000692212.1:n.2849G>A
ENST00000692355.1:c.490G>A
ENST00000692413.1:c.1219G>A ENSP00000509374.1:p.Val407Ile
ENST00000692825.1:c.1305G>A ENSP00000509447.1:n.1305G>A
ENST00000693308.1:c.1285G>A ENSP00000509770.1:p.Val429Ile
ENST00000693763.1:n.2397G>A
ENST00000245407.8:c.1237G>A MANE Select ENSP00000245407.3:p.Val413Ile
ENST00000245407.7:c.1237G>A ENSP00000245407.3:p.Val413Ile
ENST00000435065.6:c.1309G>A ENSP00000402760.2:p.Val437Ile
ENST00000447841.5:c.112-1559G>A
ENST00000448810.5:c.499G>A
ENST00000461013.5:n.8659G>A
ENST00000475308.1:n.1915G>A
ENST00000479605.5:n.340G>A
NM_001308122.1:c.1309G>A NP_001295051.1:p.Val437Ile
NM_003060.3:c.1237G>A NP_003051.1:p.Val413Ile
XM_011543590.1:c.619G>A XP_011541892.1:p.Val207Ile
XR_427718.1:n.1597G>A
XR_948290.1:n.1394-1559G>A
XR_948291.1:n.1591G>A
XM_011543590.2:c.619G>A XP_011541892.1:p.Val207Ile
XM_017009778.2:c.709G>A XP_016865267.1:p.Val237Ile
XR_001742215.1:n.1492G>A
XR_001742216.1:n.1511G>A
XR_427718.2:n.1597G>A
XR_948290.2:n.1394-1559G>A
XR_948291.2:n.1591G>A
NM_003060.4:c.1237G>A MANE Select NP_003051.1:p.Val413Ile
NM_001308122.2:c.1309G>A NP_001295051.1:p.Val437Ile