Canonical Allele Identifier: CA360809740
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393712G>C , CM000667.2:g.132393712G>C GRCh38
NC_000005.9:g.131729404G>C , CM000667.1:g.131729404G>C GRCh37
NC_000005.8:g.131757303G>C NCBI36
NG_008982.1:g.29004G>C
NG_008982.2:g.29009G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1292-473G>C ENSP00000388838.2:n.1292-473G>C
ENST00000435065.7:c.1559G>C ENSP00000402760.2:p.Gly520Ala
ENST00000448810.6:c.*339G>C ENSP00000401860.2:n.*339G>C
ENST00000685543.1:n.1628G>C
ENST00000686757.1:c.*651G>C ENSP00000510721.1:n.*651G>C
ENST00000686868.1:n.479G>C
ENST00000687740.1:n.4172G>C
ENST00000688151.1:n.2797G>C
ENST00000689271.1:c.1334G>C ENSP00000510797.1:p.Gly445Ala
ENST00000690900.1:c.*651G>C ENSP00000510703.1:n.*651G>C
ENST00000692212.1:n.4627G>C
ENST00000692355.1:c.740G>C
ENST00000692413.1:c.1469G>C ENSP00000509374.1:p.Gly490Ala
ENST00000692825.1:c.1555G>C ENSP00000509447.1:n.1555G>C
ENST00000693308.1:c.1535G>C ENSP00000509770.1:p.Gly512Ala
ENST00000693763.1:n.2647G>C
ENST00000245407.8:c.1487G>C MANE Select ENSP00000245407.3:p.Gly496Ala
ENST00000245407.7:c.1487G>C ENSP00000245407.3:p.Gly496Ala
ENST00000435065.6:c.1559G>C ENSP00000402760.2:p.Gly520Ala
ENST00000447841.5:c.331G>C
ENST00000448810.5:c.749G>C
ENST00000461013.5:n.8909G>C
ENST00000475308.1:n.2165G>C
NM_001308122.1:c.1559G>C NP_001295051.1:p.Gly520Ala
NM_003060.3:c.1487G>C NP_003051.1:p.Gly496Ala
XM_011543590.1:c.869G>C XP_011541892.1:p.Gly290Ala
XR_948290.1:n.1613G>C
XM_011543590.2:c.869G>C XP_011541892.1:p.Gly290Ala
XM_017009778.2:c.959G>C XP_016865267.1:p.Gly320Ala
XR_001742215.1:n.1742G>C
XR_001742216.1:n.1761G>C
XR_427718.2:n.1847G>C
XR_948290.2:n.1613G>C
XR_948291.2:n.1841G>C
NM_003060.4:c.1487G>C MANE Select NP_003051.1:p.Gly496Ala
NM_001308122.2:c.1559G>C NP_001295051.1:p.Gly520Ala