Canonical Allele Identifier: CA312953
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6427
dbSNP Id: rs267607054

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390832C>T , CM000667.2:g.132390832C>T GRCh38
NC_000005.9:g.131726524C>T , CM000667.1:g.131726524C>T GRCh37
NC_000005.8:g.131754423C>T NCBI36
NG_008982.1:g.26124C>T
NG_008982.2:g.26129C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1036C>T ENSP00000388838.2:p.Arg346Trp
ENST00000435065.7:c.1267C>T ENSP00000402760.2:p.Arg423Trp
ENST00000448810.6:c.*47C>T ENSP00000401860.2:n.*47C>T
ENST00000685543.1:n.1336C>T
ENST00000686757.1:c.*359C>T ENSP00000510721.1:n.*359C>T
ENST00000687740.1:n.3880C>T
ENST00000688151.1:n.2505C>T
ENST00000689271.1:c.1042C>T ENSP00000510797.1:p.Arg348Trp
ENST00000690900.1:c.*359C>T ENSP00000510703.1:n.*359C>T
ENST00000692212.1:n.2807C>T
ENST00000692355.1:c.448C>T
ENST00000692413.1:c.1177C>T ENSP00000509374.1:p.Arg393Trp
ENST00000692825.1:c.1263C>T ENSP00000509447.1:n.1263C>T
ENST00000693308.1:c.1243C>T ENSP00000509770.1:p.Arg415Trp
ENST00000693763.1:n.2355C>T
ENST00000245407.8:c.1195C>T MANE Select ENSP00000245407.3:p.Arg399Trp
ENST00000245407.7:c.1195C>T ENSP00000245407.3:p.Arg399Trp
ENST00000435065.6:c.1267C>T ENSP00000402760.2:p.Arg423Trp
ENST00000447841.5:c.112-1601C>T
ENST00000448810.5:c.457C>T
ENST00000461013.5:n.8617C>T
ENST00000475308.1:n.1873C>T
ENST00000479605.5:n.298C>T
NM_001308122.1:c.1267C>T NP_001295051.1:p.Arg423Trp
NM_003060.3:c.1195C>T NP_003051.1:p.Arg399Trp
XM_011543590.1:c.577C>T XP_011541892.1:p.Arg193Trp
XR_427718.1:n.1555C>T
XR_948290.1:n.1394-1601C>T
XR_948291.1:n.1549C>T
XM_011543590.2:c.577C>T XP_011541892.1:p.Arg193Trp
XM_017009778.2:c.667C>T XP_016865267.1:p.Arg223Trp
XR_001742215.1:n.1450C>T
XR_001742216.1:n.1469C>T
XR_427718.2:n.1555C>T
XR_948290.2:n.1394-1601C>T
XR_948291.2:n.1549C>T
NM_003060.4:c.1195C>T MANE Select NP_003051.1:p.Arg399Trp
NM_001308122.2:c.1267C>T NP_001295051.1:p.Arg423Trp