Canonical Allele Identifier: CA234953

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392519G>A , CM000667.2:g.132392519G>A	GRCh38
NC_000005.9:g.131728211G>A , CM000667.1:g.131728211G>A	GRCh37
NC_000005.8:g.131756110G>A	NCBI36
NG_008982.1:g.27811G>A
NG_008982.2:g.27816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1195G>A	ENSP00000388838.2:p.Glu399Lys
ENST00000435065.7:c.1426G>A	ENSP00000402760.2:p.Glu476Lys
ENST00000448810.6:c.*206G>A	ENSP00000401860.2:n.*206G>A
ENST00000685543.1:n.1495G>A
ENST00000686757.1:c.*518G>A	ENSP00000510721.1:n.*518G>A
ENST00000687740.1:n.4039G>A
ENST00000688151.1:n.2664G>A
ENST00000689271.1:c.1201G>A	ENSP00000510797.1:p.Glu401Lys
ENST00000690900.1:c.*518G>A	ENSP00000510703.1:n.*518G>A
ENST00000692212.1:n.4494G>A
ENST00000692355.1:c.607G>A
ENST00000692413.1:c.1336G>A	ENSP00000509374.1:p.Glu446Lys
ENST00000692825.1:c.1422G>A	ENSP00000509447.1:n.1422G>A
ENST00000693308.1:c.1402G>A	ENSP00000509770.1:p.Glu468Lys
ENST00000693763.1:n.2514G>A
ENST00000245407.8:c.1354G>A MANE Select	ENSP00000245407.3:p.Glu452Lys
ENST00000245407.7:c.1354G>A	ENSP00000245407.3:p.Glu452Lys
ENST00000435065.6:c.1426G>A	ENSP00000402760.2:p.Glu476Lys
ENST00000447841.5:c.198G>A
ENST00000448810.5:c.616G>A
ENST00000461013.5:n.8776G>A
ENST00000475308.1:n.2032G>A
ENST00000479605.5:n.457G>A
NM_001308122.1:c.1426G>A	NP_001295051.1:p.Glu476Lys
NM_003060.3:c.1354G>A	NP_003051.1:p.Glu452Lys
XM_011543590.1:c.736G>A	XP_011541892.1:p.Glu246Lys
XR_948290.1:n.1480G>A
XM_011543590.2:c.736G>A	XP_011541892.1:p.Glu246Lys
XM_017009778.2:c.826G>A	XP_016865267.1:p.Glu276Lys
XR_001742215.1:n.1609G>A
XR_001742216.1:n.1628G>A
XR_427718.2:n.1714G>A
XR_948290.2:n.1480G>A
XR_948291.2:n.1708G>A
NM_003060.4:c.1354G>A MANE Select	NP_003051.1:p.Glu452Lys
NM_001308122.2:c.1426G>A	NP_001295051.1:p.Glu476Lys