Canonical Allele Identifier: CA360807787

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726557G>C (hg19) ; chr5:g.132390865G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390865G>C , CM000667.2:g.132390865G>C	GRCh38
NC_000005.9:g.131726557G>C , CM000667.1:g.131726557G>C	GRCh37
NC_000005.8:g.131754456G>C	NCBI36
NG_008982.1:g.26157G>C
NG_008982.2:g.26162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1069G>C	ENSP00000388838.2:p.Gly357Arg
ENST00000435065.7:c.1300G>C	ENSP00000402760.2:p.Gly434Arg
ENST00000448810.6:c.*80G>C	ENSP00000401860.2:n.*80G>C
ENST00000685543.1:n.1369G>C
ENST00000686757.1:c.*392G>C	ENSP00000510721.1:n.*392G>C
ENST00000687740.1:n.3913G>C
ENST00000688151.1:n.2538G>C
ENST00000689271.1:c.1075G>C	ENSP00000510797.1:p.Gly359Arg
ENST00000690900.1:c.*392G>C	ENSP00000510703.1:n.*392G>C
ENST00000692212.1:n.2840G>C
ENST00000692355.1:c.481G>C
ENST00000692413.1:c.1210G>C	ENSP00000509374.1:p.Gly404Arg
ENST00000692825.1:c.1296G>C	ENSP00000509447.1:n.1296G>C
ENST00000693308.1:c.1276G>C	ENSP00000509770.1:p.Gly426Arg
ENST00000693763.1:n.2388G>C
ENST00000245407.8:c.1228G>C MANE Select	ENSP00000245407.3:p.Gly410Arg
ENST00000245407.7:c.1228G>C	ENSP00000245407.3:p.Gly410Arg
ENST00000435065.6:c.1300G>C	ENSP00000402760.2:p.Gly434Arg
ENST00000447841.5:c.112-1568G>C
ENST00000448810.5:c.490G>C
ENST00000461013.5:n.8650G>C
ENST00000475308.1:n.1906G>C
ENST00000479605.5:n.331G>C
NM_001308122.1:c.1300G>C	NP_001295051.1:p.Gly434Arg
NM_003060.3:c.1228G>C	NP_003051.1:p.Gly410Arg
XM_011543590.1:c.610G>C	XP_011541892.1:p.Gly204Arg
XR_427718.1:n.1588G>C
XR_948290.1:n.1394-1568G>C
XR_948291.1:n.1582G>C
XM_011543590.2:c.610G>C	XP_011541892.1:p.Gly204Arg
XM_017009778.2:c.700G>C	XP_016865267.1:p.Gly234Arg
XR_001742215.1:n.1483G>C
XR_001742216.1:n.1502G>C
XR_427718.2:n.1588G>C
XR_948290.2:n.1394-1568G>C
XR_948291.2:n.1582G>C
NM_003060.4:c.1228G>C MANE Select	NP_003051.1:p.Gly410Arg
NM_001308122.2:c.1300G>C	NP_001295051.1:p.Gly434Arg