Canonical Allele Identifier: CA312938

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384155G>A , CM000667.2:g.132384155G>A	GRCh38
NC_000005.9:g.131719847G>A , CM000667.1:g.131719847G>A	GRCh37
NC_000005.8:g.131747746G>A	NCBI36
NG_008982.1:g.19447G>A
NG_008982.2:g.19452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.506G>A	ENSP00000388838.2:p.Arg169Gln
ENST00000435065.7:c.578G>A	ENSP00000402760.2:p.Arg193Gln
ENST00000448810.6:c.506G>A	ENSP00000401860.2:p.Arg169Gln
ENST00000686757.1:c.506G>A	ENSP00000510721.1:p.Arg169Gln
ENST00000687740.1:n.640G>A
ENST00000688151.1:n.1685G>A
ENST00000689271.1:c.506G>A	ENSP00000510797.1:p.Arg169Gln
ENST00000690900.1:c.506G>A	ENSP00000510703.1:p.Arg169Gln
ENST00000692355.1:c.58G>A
ENST00000692413.1:c.506G>A	ENSP00000509374.1:p.Arg169Gln
ENST00000692825.1:c.574G>A	ENSP00000509447.1:n.574G>A
ENST00000693308.1:c.506G>A	ENSP00000509770.1:p.Arg169Gln
ENST00000693763.1:n.640G>A
ENST00000245407.8:c.506G>A MANE Select	ENSP00000245407.3:p.Arg169Gln
ENST00000245407.7:c.506G>A	ENSP00000245407.3:p.Arg169Gln
ENST00000415928.5:c.275G>A	ENSP00000388838.1:p.Arg92Gln
ENST00000435065.6:c.578G>A	ENSP00000402760.2:p.Arg193Gln
ENST00000437841.6:c.394-1173G>A	ENSP00000400553.1:n.394-1173G>A
ENST00000461013.5:n.7928G>A
NM_001308122.1:c.578G>A	NP_001295051.1:p.Arg193Gln
NM_003060.3:c.506G>A	NP_003051.1:p.Arg169Gln
XR_427718.1:n.847G>A
XR_948290.1:n.847G>A
XR_948291.1:n.847G>A
XM_011543590.2:c.-126G>A	XP_011541892.1:n.-126G>A
XM_017009778.2:c.-23G>A	XP_016865267.1:n.-23G>A
XR_001742215.1:n.847G>A
XR_001742216.1:n.847G>A
XR_427718.2:n.847G>A
XR_948290.2:n.847G>A
XR_948291.2:n.847G>A
NM_003060.4:c.506G>A MANE Select	NP_003051.1:p.Arg169Gln
NM_001308122.2:c.578G>A	NP_001295051.1:p.Arg193Gln