Canonical Allele Identifier: CA360804949

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385334A>C , CM000667.2:g.132385334A>C	GRCh38
NC_000005.9:g.131721026A>C , CM000667.1:g.131721026A>C	GRCh37
NC_000005.8:g.131748925A>C	NCBI36
NG_008982.1:g.20626A>C
NG_008982.2:g.20631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1020A>C	ENSP00000388838.2:n.665+1020A>C
ENST00000435065.7:c.731A>C	ENSP00000402760.2:p.Glu244Ala
ENST00000448810.6:c.659A>C	ENSP00000401860.2:p.Glu220Ala
ENST00000686757.1:c.678A>C	ENSP00000510721.1:p.Arg226Ser
ENST00000687740.1:n.1819A>C
ENST00000688151.1:n.1851A>C
ENST00000689271.1:c.671+1014A>C	ENSP00000510797.1:n.671+1014A>C
ENST00000690900.1:c.672-42A>C	ENSP00000510703.1:n.672-42A>C
ENST00000692212.1:n.485A>C
ENST00000692355.1:c.204+1033A>C
ENST00000692413.1:c.678A>C	ENSP00000509374.1:p.Arg226Ser
ENST00000692825.1:c.727A>C	ENSP00000509447.1:n.727A>C
ENST00000693308.1:c.672A>C	ENSP00000509770.1:p.Arg224Ser
ENST00000693763.1:n.1819A>C
ENST00000245407.8:c.659A>C MANE Select	ENSP00000245407.3:p.Glu220Ala
ENST00000245407.7:c.659A>C	ENSP00000245407.3:p.Glu220Ala
ENST00000415928.5:c.428A>C	ENSP00000388838.1:p.Glu143Ala
ENST00000435065.6:c.731A>C	ENSP00000402760.2:p.Glu244Ala
ENST00000437841.6:c.400A>C	ENSP00000400553.1:p.Lys134Gln
ENST00000448810.5:c.7A>C
ENST00000461013.5:n.8081A>C
NM_001308122.1:c.731A>C	NP_001295051.1:p.Glu244Ala
NM_003060.3:c.659A>C	NP_003051.1:p.Glu220Ala
XM_011543590.1:c.41A>C	XP_011541892.1:p.Glu14Ala
XR_427718.1:n.1019A>C
XR_948290.1:n.1000A>C
XR_948291.1:n.1013A>C
XM_011543590.2:c.41A>C	XP_011541892.1:p.Glu14Ala
XM_017009778.2:c.131A>C	XP_016865267.1:p.Glu44Ala
XR_001742215.1:n.1000A>C
XR_001742216.1:n.1019A>C
XR_427718.2:n.1019A>C
XR_948290.2:n.1000A>C
XR_948291.2:n.1013A>C
NM_003060.4:c.659A>C MANE Select	NP_003051.1:p.Glu220Ala
NM_001308122.2:c.731A>C	NP_001295051.1:p.Glu244Ala