Canonical Allele Identifier: CA360805539

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387045G>C , CM000667.2:g.132387045G>C	GRCh38
NC_000005.9:g.131722737G>C , CM000667.1:g.131722737G>C	GRCh37
NC_000005.8:g.131750636G>C	NCBI36
NG_008982.1:g.22337G>C
NG_008982.2:g.22342G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.845G>C MANE Select	NP_003051.1:p.Arg282Pro
ENST00000245407.8:c.845G>C MANE Select	ENSP00000245407.3:p.Arg282Pro
NM_001308122.1:c.917G>C	NP_001295051.1:p.Arg306Pro
NM_001308122.2:c.917G>C	NP_001295051.1:p.Arg306Pro
NM_003060.3:c.845G>C	NP_003051.1:p.Arg282Pro
ENST00000245407.7:c.845G>C	ENSP00000245407.3:p.Arg282Pro
ENST00000415928.5:c.614G>C	ENSP00000388838.1:p.Arg205Pro
ENST00000415928.6:c.686G>C	ENSP00000388838.2:p.Arg229Pro
ENST00000435065.6:c.917G>C	ENSP00000402760.2:p.Arg306Pro
ENST00000435065.7:c.917G>C	ENSP00000402760.2:p.Arg306Pro
ENST00000437841.6:c.*160G>C	ENSP00000400553.1:n.*160G>C
ENST00000448810.5:c.193G>C
ENST00000448810.6:c.845G>C	ENSP00000401860.2:p.Arg282Pro
ENST00000461013.5:n.8267G>C
ENST00000686757.1:c.*9G>C	ENSP00000510721.1:n.*9G>C
ENST00000687740.1:n.3530G>C
ENST00000688151.1:n.2155G>C
ENST00000689271.1:c.692G>C	ENSP00000510797.1:p.Arg231Pro
ENST00000690900.1:c.*9G>C	ENSP00000510703.1:n.*9G>C
ENST00000692212.1:n.789G>C
ENST00000692355.1:c.205-1876G>C
ENST00000692413.1:c.844-17G>C	ENSP00000509374.1:n.844-17G>C
ENST00000692825.1:c.913G>C	ENSP00000509447.1:n.913G>C
ENST00000693308.1:c.893G>C	ENSP00000509770.1:p.Arg298Pro
ENST00000693763.1:n.2005G>C
XM_011543590.1:c.227G>C	XP_011541892.1:p.Arg76Pro
XM_011543590.2:c.227G>C	XP_011541892.1:p.Arg76Pro
XM_017009778.2:c.317G>C	XP_016865267.1:p.Arg106Pro
XR_001742215.1:n.1186G>C
XR_001742216.1:n.1205G>C
XR_427718.1:n.1205G>C
XR_427718.2:n.1205G>C
XR_948290.1:n.1186G>C
XR_948290.2:n.1186G>C
XR_948291.1:n.1199G>C
XR_948291.2:n.1199G>C