Canonical Allele Identifier: CA360806706

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132389020T>A , CM000667.2:g.132389020T>A	GRCh38
NC_000005.9:g.131724712T>A , CM000667.1:g.131724712T>A	GRCh37
NC_000005.8:g.131752611T>A	NCBI36
NG_008982.1:g.24312T>A
NG_008982.2:g.24317T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.892T>A	ENSP00000388838.2:p.Trp298Arg
ENST00000435065.7:c.1123T>A	ENSP00000402760.2:p.Trp375Arg
ENST00000448810.6:c.1051T>A	ENSP00000401860.2:p.Cys351Ser
ENST00000685543.1:n.1192T>A
ENST00000686757.1:c.*215T>A	ENSP00000510721.1:n.*215T>A
ENST00000687740.1:n.3736T>A
ENST00000688151.1:n.2361T>A
ENST00000689271.1:c.898T>A	ENSP00000510797.1:p.Trp300Arg
ENST00000690900.1:c.*215T>A	ENSP00000510703.1:n.*215T>A
ENST00000692212.1:n.995T>A
ENST00000692355.1:c.304T>A
ENST00000692413.1:c.1033T>A	ENSP00000509374.1:p.Trp345Arg
ENST00000692825.1:c.1119T>A	ENSP00000509447.1:n.1119T>A
ENST00000693308.1:c.1099T>A	ENSP00000509770.1:p.Trp367Arg
ENST00000693763.1:n.2211T>A
ENST00000245407.8:c.1051T>A MANE Select	ENSP00000245407.3:p.Trp351Arg
ENST00000245407.7:c.1051T>A	ENSP00000245407.3:p.Trp351Arg
ENST00000435065.6:c.1123T>A	ENSP00000402760.2:p.Trp375Arg
ENST00000447841.5:c.110T>A
ENST00000448810.5:c.399T>A
ENST00000461013.5:n.8473T>A
ENST00000475308.1:n.61T>A
ENST00000479605.5:n.154T>A
NM_001308122.1:c.1123T>A	NP_001295051.1:p.Trp375Arg
NM_003060.3:c.1051T>A	NP_003051.1:p.Trp351Arg
XM_011543590.1:c.433T>A	XP_011541892.1:p.Trp145Arg
XR_427718.1:n.1411T>A
XR_948290.1:n.1392T>A
XR_948291.1:n.1405T>A
XM_011543590.2:c.433T>A	XP_011541892.1:p.Trp145Arg
XM_017009778.2:c.523T>A	XP_016865267.1:p.Trp175Arg
XR_001742215.1:n.1392T>A
XR_001742216.1:n.1411T>A
XR_427718.2:n.1411T>A
XR_948290.2:n.1392T>A
XR_948291.2:n.1405T>A
NM_003060.4:c.1051T>A MANE Select	NP_003051.1:p.Trp351Arg
NM_001308122.2:c.1123T>A	NP_001295051.1:p.Trp375Arg