Canonical Allele Identifier: CA312947

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385444C>T , CM000667.2:g.132385444C>T	GRCh38
NC_000005.9:g.131721136C>T , CM000667.1:g.131721136C>T	GRCh37
NC_000005.8:g.131749035C>T	NCBI36
NG_008982.1:g.20736C>T
NG_008982.2:g.20741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1130C>T	ENSP00000388838.2:n.665+1130C>T
ENST00000435065.7:c.841C>T	ENSP00000402760.2:p.Arg281Trp
ENST00000448810.6:c.769C>T	ENSP00000401860.2:p.Arg257Trp
ENST00000686757.1:c.788C>T	ENSP00000510721.1:p.Ala263Val
ENST00000687740.1:n.1929C>T
ENST00000688151.1:n.1961C>T
ENST00000689271.1:c.671+1124C>T	ENSP00000510797.1:n.671+1124C>T
ENST00000690900.1:c.740C>T	ENSP00000510703.1:p.Ala247Val
ENST00000692212.1:n.595C>T
ENST00000692355.1:c.204+1143C>T
ENST00000692413.1:c.788C>T	ENSP00000509374.1:p.Ala263Val
ENST00000692825.1:c.837C>T	ENSP00000509447.1:n.837C>T
ENST00000693308.1:c.782C>T	ENSP00000509770.1:p.Ala261Val
ENST00000693763.1:n.1929C>T
ENST00000245407.8:c.769C>T MANE Select	ENSP00000245407.3:p.Arg257Trp
ENST00000245407.7:c.769C>T	ENSP00000245407.3:p.Arg257Trp
ENST00000415928.5:c.538C>T	ENSP00000388838.1:p.Arg180Trp
ENST00000435065.6:c.841C>T	ENSP00000402760.2:p.Arg281Trp
ENST00000437841.6:c.*84C>T	ENSP00000400553.1:n.*84C>T
ENST00000448810.5:c.117C>T
ENST00000461013.5:n.8191C>T
NM_001308122.1:c.841C>T	NP_001295051.1:p.Arg281Trp
NM_003060.3:c.769C>T	NP_003051.1:p.Arg257Trp
XM_011543590.1:c.151C>T	XP_011541892.1:p.Arg51Trp
XR_427718.1:n.1129C>T
XR_948290.1:n.1110C>T
XR_948291.1:n.1123C>T
XM_011543590.2:c.151C>T	XP_011541892.1:p.Arg51Trp
XM_017009778.2:c.241C>T	XP_016865267.1:p.Arg81Trp
XR_001742215.1:n.1110C>T
XR_001742216.1:n.1129C>T
XR_427718.2:n.1129C>T
XR_948290.2:n.1110C>T
XR_948291.2:n.1123C>T
NM_003060.4:c.769C>T MANE Select	NP_003051.1:p.Arg257Trp
NM_001308122.2:c.841C>T	NP_001295051.1:p.Arg281Trp