Canonical Allele Identifier: CA1583149875
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390713T= , CM000667.2:g.132390713T= GRCh38
NC_000005.9:g.131726405T= , CM000667.1:g.131726405T= GRCh37
NC_000005.8:g.131754304T= NCBI36
NG_008982.1:g.26005T=
NG_008982.2:g.26010T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.917T= ENSP00000388838.2:p.Phe306=
ENST00000435065.7:c.1148T= ENSP00000402760.2:p.Phe383=
ENST00000448810.6:c.1053-63T= ENSP00000401860.2:n.1053-63T=
ENST00000685543.1:n.1217T=
ENST00000686757.1:c.*240T= ENSP00000510721.1:n.*240T=
ENST00000687740.1:n.3761T=
ENST00000688151.1:n.2386T=
ENST00000689271.1:c.923T= ENSP00000510797.1:p.Phe308=
ENST00000690900.1:c.*240T= ENSP00000510703.1:n.*240T=
ENST00000692212.1:n.2688T=
ENST00000692355.1:c.329T=
ENST00000692413.1:c.1058T= ENSP00000509374.1:p.Phe353=
ENST00000692825.1:c.1144T= ENSP00000509447.1:n.1144T=
ENST00000693308.1:c.1124T= ENSP00000509770.1:p.Phe375=
ENST00000693763.1:n.2236T=
ENST00000245407.8:c.1076T= MANE Select ENSP00000245407.3:p.Phe359=
ENST00000245407.7:c.1076T= ENSP00000245407.3:p.Phe359=
ENST00000435065.6:c.1148T= ENSP00000402760.2:p.Phe383=
ENST00000447841.5:c.111+1692T=
ENST00000448810.5:c.401-63T=
ENST00000461013.5:n.8498T=
ENST00000475308.1:n.1754T=
ENST00000479605.5:n.179T=
NM_001308122.1:c.1148T= NP_001295051.1:p.Phe383=
NM_003060.3:c.1076T= NP_003051.1:p.Phe359=
XM_011543590.1:c.458T= XP_011541892.1:p.Phe153=
XR_427718.1:n.1436T=
XR_948290.1:n.1393+1692T=
XR_948291.1:n.1430T=
XM_011543590.2:c.458T= XP_011541892.1:p.Phe153=
XM_017009778.2:c.548T= XP_016865267.1:p.Phe183=
XR_001742215.1:n.1394-63T=
XR_001742216.1:n.1413-63T=
XR_427718.2:n.1436T=
XR_948290.2:n.1393+1692T=
XR_948291.2:n.1430T=
NM_003060.4:c.1076T= MANE Select NP_003051.1:p.Phe359=
NM_001308122.2:c.1148T= NP_001295051.1:p.Phe383=