Canonical Allele Identifier: CA360809744
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393714A>C , CM000667.2:g.132393714A>C GRCh38
NC_000005.9:g.131729406A>C , CM000667.1:g.131729406A>C GRCh37
NC_000005.8:g.131757305A>C NCBI36
NG_008982.1:g.29006A>C
NG_008982.2:g.29011A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-471A>C ENSP00000388838.2:n.1292-471A>C
ENST00000435065.7:c.1561A>C ENSP00000402760.2:p.Ser521Arg
ENST00000448810.6:c.*341A>C ENSP00000401860.2:n.*341A>C
ENST00000685543.1:n.1630A>C
ENST00000686757.1:c.*653A>C ENSP00000510721.1:n.*653A>C
ENST00000686868.1:n.481A>C
ENST00000687740.1:n.4174A>C
ENST00000688151.1:n.2799A>C
ENST00000689271.1:c.1336A>C ENSP00000510797.1:p.Ser446Arg
ENST00000690900.1:c.*653A>C ENSP00000510703.1:n.*653A>C
ENST00000692212.1:n.4629A>C
ENST00000692355.1:c.742A>C
ENST00000692413.1:c.1471A>C ENSP00000509374.1:p.Ser491Arg
ENST00000692825.1:c.1557A>C ENSP00000509447.1:n.1557A>C
ENST00000693308.1:c.1537A>C ENSP00000509770.1:p.Ser513Arg
ENST00000693763.1:n.2649A>C
ENST00000245407.8:c.1489A>C MANE Select ENSP00000245407.3:p.Ser497Arg
ENST00000245407.7:c.1489A>C ENSP00000245407.3:p.Ser497Arg
ENST00000435065.6:c.1561A>C ENSP00000402760.2:p.Ser521Arg
ENST00000447841.5:c.333A>C
ENST00000448810.5:c.751A>C
ENST00000461013.5:n.8911A>C
ENST00000475308.1:n.2167A>C
NM_001308122.1:c.1561A>C NP_001295051.1:p.Ser521Arg
NM_003060.3:c.1489A>C NP_003051.1:p.Ser497Arg
XM_011543590.1:c.871A>C XP_011541892.1:p.Ser291Arg
XR_948290.1:n.1615A>C
XM_011543590.2:c.871A>C XP_011541892.1:p.Ser291Arg
XM_017009778.2:c.961A>C XP_016865267.1:p.Ser321Arg
XR_001742215.1:n.1744A>C
XR_001742216.1:n.1763A>C
XR_427718.2:n.1849A>C
XR_948290.2:n.1615A>C
XR_948291.2:n.1843A>C
NM_003060.4:c.1489A>C MANE Select NP_003051.1:p.Ser497Arg
NM_001308122.2:c.1561A>C NP_001295051.1:p.Ser521Arg