Canonical Allele Identifier: CA3404224

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132394241G>A , CM000667.2:g.132394241G>A	GRCh38
NC_000005.9:g.131729933G>A , CM000667.1:g.131729933G>A	GRCh37
NC_000005.8:g.131757832G>A	NCBI36
NG_008982.1:g.29533G>A
NG_008982.2:g.29538G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.*52G>A	ENSP00000388838.2:n.*52G>A
ENST00000435065.7:c.1715G>A	ENSP00000402760.2:p.Arg572Lys
ENST00000448810.6:c.*495G>A	ENSP00000401860.2:n.*495G>A
ENST00000685543.1:n.1784G>A
ENST00000686757.1:c.*807G>A	ENSP00000510721.1:n.*807G>A
ENST00000686868.1:n.635G>A
ENST00000687740.1:n.4328G>A
ENST00000688151.1:n.2953G>A
ENST00000689271.1:c.1490G>A	ENSP00000510797.1:p.Arg497Lys
ENST00000690900.1:c.*807G>A	ENSP00000510703.1:n.*807G>A
ENST00000692212.1:n.4783G>A
ENST00000692355.1:c.896G>A
ENST00000692413.1:c.1625G>A	ENSP00000509374.1:p.Arg542Lys
ENST00000692825.1:c.1711G>A	ENSP00000509447.1:n.1711G>A
ENST00000693308.1:c.1691G>A	ENSP00000509770.1:p.Arg564Lys
ENST00000693763.1:n.2803G>A
ENST00000245407.8:c.1643G>A MANE Select	ENSP00000245407.3:p.Arg548Lys
ENST00000245407.7:c.1643G>A	ENSP00000245407.3:p.Arg548Lys
ENST00000435065.6:c.1715G>A	ENSP00000402760.2:p.Arg572Lys
ENST00000447841.5:c.487G>A
ENST00000461013.5:n.9065G>A
ENST00000475308.1:n.2321G>A
NM_001308122.1:c.1715G>A	NP_001295051.1:p.Arg572Lys
NM_003060.3:c.1643G>A	NP_003051.1:p.Arg548Lys
XM_011543590.1:c.1025G>A	XP_011541892.1:p.Arg342Lys
XR_948290.1:n.1769G>A
XM_011543590.2:c.1025G>A	XP_011541892.1:p.Arg342Lys
XM_017009778.2:c.1115G>A	XP_016865267.1:p.Arg372Lys
XR_001742215.1:n.1898G>A
XR_001742216.1:n.1917G>A
XR_427718.2:n.2003G>A
XR_948290.2:n.1769G>A
XR_948291.2:n.1997G>A
NM_003060.4:c.1643G>A MANE Select	NP_003051.1:p.Arg548Lys
NM_001308122.2:c.1715G>A	NP_001295051.1:p.Arg572Lys