Canonical Allele Identifier: CA3404008

Gene: SLC22A5

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387104A>G , CM000667.2:g.132387104A>G	GRCh38
NC_000005.9:g.131722796A>G , CM000667.1:g.131722796A>G	GRCh37
NC_000005.8:g.131750695A>G	NCBI36
NG_008982.1:g.22396A>G
NG_008982.2:g.22401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.745A>G	ENSP00000388838.2:p.Lys249Glu
ENST00000435065.7:c.976A>G	ENSP00000402760.2:p.Lys326Glu
ENST00000448810.6:c.904A>G	ENSP00000401860.2:p.Lys302Glu
ENST00000686757.1:c.*68A>G	ENSP00000510721.1:n.*68A>G
ENST00000687740.1:n.3589A>G
ENST00000688151.1:n.2214A>G
ENST00000689271.1:c.751A>G	ENSP00000510797.1:p.Lys251Glu
ENST00000690900.1:c.*68A>G	ENSP00000510703.1:n.*68A>G
ENST00000692212.1:n.848A>G
ENST00000692355.1:c.205-1817A>G
ENST00000692413.1:c.886A>G	ENSP00000509374.1:p.Lys296Glu
ENST00000692825.1:c.972A>G	ENSP00000509447.1:n.972A>G
ENST00000693308.1:c.952A>G	ENSP00000509770.1:p.Lys318Glu
ENST00000693763.1:n.2064A>G
ENST00000245407.8:c.904A>G MANE Select	ENSP00000245407.3:p.Lys302Glu
ENST00000245407.7:c.904A>G	ENSP00000245407.3:p.Lys302Glu
ENST00000415928.5:c.673A>G	ENSP00000388838.1:p.Lys225Glu
ENST00000435065.6:c.976A>G	ENSP00000402760.2:p.Lys326Glu
ENST00000437841.6:c.*219A>G	ENSP00000400553.1:n.*219A>G
ENST00000448810.5:c.252A>G
ENST00000461013.5:n.8326A>G
NM_001308122.1:c.976A>G	NP_001295051.1:p.Lys326Glu
NM_003060.3:c.904A>G	NP_003051.1:p.Lys302Glu
XM_011543590.1:c.286A>G	XP_011541892.1:p.Lys96Glu
XR_427718.1:n.1264A>G
XR_948290.1:n.1245A>G
XR_948291.1:n.1258A>G
XM_011543590.2:c.286A>G	XP_011541892.1:p.Lys96Glu
XM_017009778.2:c.376A>G	XP_016865267.1:p.Lys126Glu
XR_001742215.1:n.1245A>G
XR_001742216.1:n.1264A>G
XR_427718.2:n.1264A>G
XR_948290.2:n.1245A>G
XR_948291.2:n.1258A>G
NM_003060.4:c.904A>G MANE Select	NP_003051.1:p.Lys302Glu
NM_001308122.2:c.976A>G	NP_001295051.1:p.Lys326Glu