Canonical Allele Identifier: CA360805213

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385463T>G , CM000667.2:g.132385463T>G	GRCh38
NC_000005.9:g.131721155T>G , CM000667.1:g.131721155T>G	GRCh37
NC_000005.8:g.131749054T>G	NCBI36
NG_008982.1:g.20755T>G
NG_008982.2:g.20760T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.788T>G MANE Select	NP_003051.1:p.Leu263Arg
ENST00000245407.8:c.788T>G MANE Select	ENSP00000245407.3:p.Leu263Arg
NM_001308122.1:c.860T>G	NP_001295051.1:p.Leu287Arg
NM_001308122.2:c.860T>G	NP_001295051.1:p.Leu287Arg
NM_003060.3:c.788T>G	NP_003051.1:p.Leu263Arg
ENST00000245407.7:c.788T>G	ENSP00000245407.3:p.Leu263Arg
ENST00000415928.5:c.557T>G	ENSP00000388838.1:p.Leu186Arg
ENST00000415928.6:c.665+1149T>G	ENSP00000388838.2:n.665+1149T>G
ENST00000435065.6:c.860T>G	ENSP00000402760.2:p.Leu287Arg
ENST00000435065.7:c.860T>G	ENSP00000402760.2:p.Leu287Arg
ENST00000437841.6:c.*103T>G	ENSP00000400553.1:n.*103T>G
ENST00000448810.5:c.136T>G
ENST00000448810.6:c.788T>G	ENSP00000401860.2:p.Leu263Arg
ENST00000461013.5:n.8210T>G
ENST00000686757.1:c.807T>G	ENSP00000510721.1:p.Ala269=
ENST00000687740.1:n.1948T>G
ENST00000688151.1:n.1980T>G
ENST00000689271.1:c.671+1143T>G	ENSP00000510797.1:n.671+1143T>G
ENST00000690900.1:c.759T>G	ENSP00000510703.1:p.Ala253=
ENST00000692212.1:n.614T>G
ENST00000692355.1:c.204+1162T>G
ENST00000692413.1:c.807T>G	ENSP00000509374.1:p.Ala269=
ENST00000692825.1:c.856T>G	ENSP00000509447.1:n.856T>G
ENST00000693308.1:c.801T>G	ENSP00000509770.1:p.Ala267=
ENST00000693763.1:n.1948T>G
XM_011543590.1:c.170T>G	XP_011541892.1:p.Leu57Arg
XM_011543590.2:c.170T>G	XP_011541892.1:p.Leu57Arg
XM_017009778.2:c.260T>G	XP_016865267.1:p.Leu87Arg
XR_001742215.1:n.1129T>G
XR_001742216.1:n.1148T>G
XR_427718.1:n.1148T>G
XR_427718.2:n.1148T>G
XR_948290.1:n.1129T>G
XR_948290.2:n.1129T>G
XR_948291.1:n.1142T>G
XR_948291.2:n.1142T>G