Canonical Allele Identifier: CA1583146212
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387054T= , CM000667.2:g.132387054T= GRCh38
NC_000005.9:g.131722746T= , CM000667.1:g.131722746T= GRCh37
NC_000005.8:g.131750645T= NCBI36
NG_008982.1:g.22346T=
NG_008982.2:g.22351T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.695T= ENSP00000388838.2:p.Ile232=
ENST00000435065.7:c.926T= ENSP00000402760.2:p.Ile309=
ENST00000448810.6:c.854T= ENSP00000401860.2:p.Ile285=
ENST00000686757.1:c.*18T= ENSP00000510721.1:n.*18T=
ENST00000687740.1:n.3539T=
ENST00000688151.1:n.2164T=
ENST00000689271.1:c.701T= ENSP00000510797.1:p.Ile234=
ENST00000690900.1:c.*18T= ENSP00000510703.1:n.*18T=
ENST00000692212.1:n.798T=
ENST00000692355.1:c.205-1867T=
ENST00000692413.1:c.844-8T= ENSP00000509374.1:n.844-8T=
ENST00000692825.1:c.922T= ENSP00000509447.1:n.922T=
ENST00000693308.1:c.902T= ENSP00000509770.1:p.Ile301=
ENST00000693763.1:n.2014T=
ENST00000245407.8:c.854T= MANE Select ENSP00000245407.3:p.Ile285=
ENST00000245407.7:c.854T= ENSP00000245407.3:p.Ile285=
ENST00000415928.5:c.623T= ENSP00000388838.1:p.Ile208=
ENST00000435065.6:c.926T= ENSP00000402760.2:p.Ile309=
ENST00000437841.6:c.*169T= ENSP00000400553.1:n.*169T=
ENST00000448810.5:c.202T=
ENST00000461013.5:n.8276T=
NM_001308122.1:c.926T= NP_001295051.1:p.Ile309=
NM_003060.3:c.854T= NP_003051.1:p.Ile285=
XM_011543590.1:c.236T= XP_011541892.1:p.Ile79=
XR_427718.1:n.1214T=
XR_948290.1:n.1195T=
XR_948291.1:n.1208T=
XM_011543590.2:c.236T= XP_011541892.1:p.Ile79=
XM_017009778.2:c.326T= XP_016865267.1:p.Ile109=
XR_001742215.1:n.1195T=
XR_001742216.1:n.1214T=
XR_427718.2:n.1214T=
XR_948290.2:n.1195T=
XR_948291.2:n.1208T=
NM_003060.4:c.854T= MANE Select NP_003051.1:p.Ile285=
NM_001308122.2:c.926T= NP_001295051.1:p.Ile309=