Canonical Allele Identifier: CA360809765
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393721C>T , CM000667.2:g.132393721C>T GRCh38
NC_000005.9:g.131729413C>T , CM000667.1:g.131729413C>T GRCh37
NC_000005.8:g.131757312C>T NCBI36
NG_008982.1:g.29013C>T
NG_008982.2:g.29018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-464C>T ENSP00000388838.2:n.1292-464C>T
ENST00000435065.7:c.1568C>T ENSP00000402760.2:p.Thr523Ile
ENST00000448810.6:c.*348C>T ENSP00000401860.2:n.*348C>T
ENST00000685543.1:n.1637C>T
ENST00000686757.1:c.*660C>T ENSP00000510721.1:n.*660C>T
ENST00000686868.1:n.488C>T
ENST00000687740.1:n.4181C>T
ENST00000688151.1:n.2806C>T
ENST00000689271.1:c.1343C>T ENSP00000510797.1:p.Thr448Ile
ENST00000690900.1:c.*660C>T ENSP00000510703.1:n.*660C>T
ENST00000692212.1:n.4636C>T
ENST00000692355.1:c.749C>T
ENST00000692413.1:c.1478C>T ENSP00000509374.1:p.Thr493Ile
ENST00000692825.1:c.1564C>T ENSP00000509447.1:n.1564C>T
ENST00000693308.1:c.1544C>T ENSP00000509770.1:p.Thr515Ile
ENST00000693763.1:n.2656C>T
ENST00000245407.8:c.1496C>T MANE Select ENSP00000245407.3:p.Thr499Ile
ENST00000245407.7:c.1496C>T ENSP00000245407.3:p.Thr499Ile
ENST00000435065.6:c.1568C>T ENSP00000402760.2:p.Thr523Ile
ENST00000447841.5:c.340C>T
ENST00000448810.5:c.758C>T
ENST00000461013.5:n.8918C>T
ENST00000475308.1:n.2174C>T
NM_001308122.1:c.1568C>T NP_001295051.1:p.Thr523Ile
NM_003060.3:c.1496C>T NP_003051.1:p.Thr499Ile
XM_011543590.1:c.878C>T XP_011541892.1:p.Thr293Ile
XR_948290.1:n.1622C>T
XM_011543590.2:c.878C>T XP_011541892.1:p.Thr293Ile
XM_017009778.2:c.968C>T XP_016865267.1:p.Thr323Ile
XR_001742215.1:n.1751C>T
XR_001742216.1:n.1770C>T
XR_427718.2:n.1856C>T
XR_948290.2:n.1622C>T
XR_948291.2:n.1850C>T
NM_003060.4:c.1496C>T MANE Select NP_003051.1:p.Thr499Ile
NM_001308122.2:c.1568C>T NP_001295051.1:p.Thr523Ile