Canonical Allele Identifier: CA360806414

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388983G>A , CM000667.2:g.132388983G>A	GRCh38
NC_000005.9:g.131724675G>A , CM000667.1:g.131724675G>A	GRCh37
NC_000005.8:g.131752574G>A	NCBI36
NG_008982.1:g.24275G>A
NG_008982.2:g.24280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1014G>A MANE Select	NP_003051.1:p.Trp338Ter
ENST00000245407.8:c.1014G>A MANE Select	ENSP00000245407.3:p.Trp338Ter
NM_001308122.1:c.1086G>A	NP_001295051.1:p.Trp362Ter
NM_001308122.2:c.1086G>A	NP_001295051.1:p.Trp362Ter
NM_003060.3:c.1014G>A	NP_003051.1:p.Trp338Ter
ENST00000245407.7:c.1014G>A	ENSP00000245407.3:p.Trp338Ter
ENST00000415928.6:c.855G>A	ENSP00000388838.2:p.Trp285Ter
ENST00000435065.6:c.1086G>A	ENSP00000402760.2:p.Trp362Ter
ENST00000435065.7:c.1086G>A	ENSP00000402760.2:p.Trp362Ter
ENST00000437841.6:c.*329G>A	ENSP00000400553.1:n.*329G>A
ENST00000447841.5:c.73G>A
ENST00000448810.5:c.362G>A
ENST00000448810.6:c.1014G>A	ENSP00000401860.2:p.Trp338Ter
ENST00000461013.5:n.8436G>A
ENST00000475308.1:n.24G>A
ENST00000479605.5:n.117G>A
ENST00000685543.1:n.1155G>A
ENST00000686757.1:c.*178G>A	ENSP00000510721.1:n.*178G>A
ENST00000687740.1:n.3699G>A
ENST00000688151.1:n.2324G>A
ENST00000689271.1:c.861G>A	ENSP00000510797.1:p.Trp287Ter
ENST00000690900.1:c.*178G>A	ENSP00000510703.1:n.*178G>A
ENST00000692212.1:n.958G>A
ENST00000692355.1:c.267G>A
ENST00000692413.1:c.996G>A	ENSP00000509374.1:p.Trp332Ter
ENST00000692825.1:c.1082G>A	ENSP00000509447.1:n.1082G>A
ENST00000693308.1:c.1062G>A	ENSP00000509770.1:p.Trp354Ter
ENST00000693763.1:n.2174G>A
XM_011543590.1:c.396G>A	XP_011541892.1:p.Trp132Ter
XM_011543590.2:c.396G>A	XP_011541892.1:p.Trp132Ter
XM_017009778.2:c.486G>A	XP_016865267.1:p.Trp162Ter
XR_001742215.1:n.1355G>A
XR_001742216.1:n.1374G>A
XR_427718.1:n.1374G>A
XR_427718.2:n.1374G>A
XR_948290.1:n.1355G>A
XR_948290.2:n.1355G>A
XR_948291.1:n.1368G>A
XR_948291.2:n.1368G>A