Canonical Allele Identifier: CA360809736
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393711G>C , CM000667.2:g.132393711G>C GRCh38
NC_000005.9:g.131729403G>C , CM000667.1:g.131729403G>C GRCh37
NC_000005.8:g.131757302G>C NCBI36
NG_008982.1:g.29003G>C
NG_008982.2:g.29008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-474G>C ENSP00000388838.2:n.1292-474G>C
ENST00000435065.7:c.1558G>C ENSP00000402760.2:p.Gly520Arg
ENST00000448810.6:c.*338G>C ENSP00000401860.2:n.*338G>C
ENST00000685543.1:n.1627G>C
ENST00000686757.1:c.*650G>C ENSP00000510721.1:n.*650G>C
ENST00000686868.1:n.478G>C
ENST00000687740.1:n.4171G>C
ENST00000688151.1:n.2796G>C
ENST00000689271.1:c.1333G>C ENSP00000510797.1:p.Gly445Arg
ENST00000690900.1:c.*650G>C ENSP00000510703.1:n.*650G>C
ENST00000692212.1:n.4626G>C
ENST00000692355.1:c.739G>C
ENST00000692413.1:c.1468G>C ENSP00000509374.1:p.Gly490Arg
ENST00000692825.1:c.1554G>C ENSP00000509447.1:n.1554G>C
ENST00000693308.1:c.1534G>C ENSP00000509770.1:p.Gly512Arg
ENST00000693763.1:n.2646G>C
ENST00000245407.8:c.1486G>C MANE Select ENSP00000245407.3:p.Gly496Arg
ENST00000245407.7:c.1486G>C ENSP00000245407.3:p.Gly496Arg
ENST00000435065.6:c.1558G>C ENSP00000402760.2:p.Gly520Arg
ENST00000447841.5:c.330G>C
ENST00000448810.5:c.748G>C
ENST00000461013.5:n.8908G>C
ENST00000475308.1:n.2164G>C
NM_001308122.1:c.1558G>C NP_001295051.1:p.Gly520Arg
NM_003060.3:c.1486G>C NP_003051.1:p.Gly496Arg
XM_011543590.1:c.868G>C XP_011541892.1:p.Gly290Arg
XR_948290.1:n.1612G>C
XM_011543590.2:c.868G>C XP_011541892.1:p.Gly290Arg
XM_017009778.2:c.958G>C XP_016865267.1:p.Gly320Arg
XR_001742215.1:n.1741G>C
XR_001742216.1:n.1760G>C
XR_427718.2:n.1846G>C
XR_948290.2:n.1612G>C
XR_948291.2:n.1840G>C
NM_003060.4:c.1486G>C MANE Select NP_003051.1:p.Gly496Arg
NM_001308122.2:c.1558G>C NP_001295051.1:p.Gly520Arg