Canonical Allele Identifier: CA360805244

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721173T>G (hg19) ; chr5:g.132385481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385481T>G , CM000667.2:g.132385481T>G	GRCh38
NC_000005.9:g.131721173T>G , CM000667.1:g.131721173T>G	GRCh37
NC_000005.8:g.131749072T>G	NCBI36
NG_008982.1:g.20773T>G
NG_008982.2:g.20778T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1167T>G	ENSP00000388838.2:n.665+1167T>G
ENST00000435065.7:c.878T>G	ENSP00000402760.2:p.Leu293Arg
ENST00000448810.6:c.806T>G	ENSP00000401860.2:p.Leu269Arg
ENST00000686757.1:c.825T>G	ENSP00000510721.1:p.Ala275=
ENST00000687740.1:n.1966T>G
ENST00000688151.1:n.1998T>G
ENST00000689271.1:c.671+1161T>G	ENSP00000510797.1:n.671+1161T>G
ENST00000690900.1:c.777T>G	ENSP00000510703.1:p.Ala259=
ENST00000692212.1:n.632T>G
ENST00000692355.1:c.204+1180T>G
ENST00000692413.1:c.825T>G	ENSP00000509374.1:p.Ala275=
ENST00000692825.1:c.874T>G	ENSP00000509447.1:n.874T>G
ENST00000693308.1:c.819T>G	ENSP00000509770.1:p.Ala273=
ENST00000693763.1:n.1966T>G
ENST00000245407.8:c.806T>G MANE Select	ENSP00000245407.3:p.Leu269Arg
ENST00000245407.7:c.806T>G	ENSP00000245407.3:p.Leu269Arg
ENST00000415928.5:c.575T>G	ENSP00000388838.1:p.Leu192Arg
ENST00000435065.6:c.878T>G	ENSP00000402760.2:p.Leu293Arg
ENST00000437841.6:c.*121T>G	ENSP00000400553.1:n.*121T>G
ENST00000448810.5:c.154T>G
ENST00000461013.5:n.8228T>G
NM_001308122.1:c.878T>G	NP_001295051.1:p.Leu293Arg
NM_003060.3:c.806T>G	NP_003051.1:p.Leu269Arg
XM_011543590.1:c.188T>G	XP_011541892.1:p.Leu63Arg
XR_427718.1:n.1166T>G
XR_948290.1:n.1147T>G
XR_948291.1:n.1160T>G
XM_011543590.2:c.188T>G	XP_011541892.1:p.Leu63Arg
XM_017009778.2:c.278T>G	XP_016865267.1:p.Leu93Arg
XR_001742215.1:n.1147T>G
XR_001742216.1:n.1166T>G
XR_427718.2:n.1166T>G
XR_948290.2:n.1147T>G
XR_948291.2:n.1160T>G
NM_003060.4:c.806T>G MANE Select	NP_003051.1:p.Leu269Arg
NM_001308122.2:c.878T>G	NP_001295051.1:p.Leu293Arg