Canonical Allele Identifier: CA360807788

Gene: SLC22A5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1069G>T	ENSP00000388838.2:p.Gly357Cys
ENST00000435065.7:c.1300G>T	ENSP00000402760.2:p.Gly434Cys
ENST00000448810.6:c.*80G>T	ENSP00000401860.2:n.*80G>T
ENST00000685543.1:n.1369G>T
ENST00000686757.1:c.*392G>T	ENSP00000510721.1:n.*392G>T
ENST00000687740.1:n.3913G>T
ENST00000688151.1:n.2538G>T
ENST00000689271.1:c.1075G>T	ENSP00000510797.1:p.Gly359Cys
ENST00000690900.1:c.*392G>T	ENSP00000510703.1:n.*392G>T
ENST00000692212.1:n.2840G>T
ENST00000692355.1:c.481G>T
ENST00000692413.1:c.1210G>T	ENSP00000509374.1:p.Gly404Cys
ENST00000692825.1:c.1296G>T	ENSP00000509447.1:n.1296G>T
ENST00000693308.1:c.1276G>T	ENSP00000509770.1:p.Gly426Cys
ENST00000693763.1:n.2388G>T
ENST00000245407.8:c.1228G>T MANE Select	ENSP00000245407.3:p.Gly410Cys
ENST00000245407.7:c.1228G>T	ENSP00000245407.3:p.Gly410Cys
ENST00000435065.6:c.1300G>T	ENSP00000402760.2:p.Gly434Cys
ENST00000447841.5:c.112-1568G>T
ENST00000448810.5:c.490G>T
ENST00000461013.5:n.8650G>T
ENST00000475308.1:n.1906G>T
ENST00000479605.5:n.331G>T
NM_001308122.1:c.1300G>T	NP_001295051.1:p.Gly434Cys
NM_003060.3:c.1228G>T	NP_003051.1:p.Gly410Cys
XM_011543590.1:c.610G>T	XP_011541892.1:p.Gly204Cys
XR_427718.1:n.1588G>T
XR_948290.1:n.1394-1568G>T
XR_948291.1:n.1582G>T
XM_011543590.2:c.610G>T	XP_011541892.1:p.Gly204Cys
XM_017009778.2:c.700G>T	XP_016865267.1:p.Gly234Cys
XR_001742215.1:n.1483G>T
XR_001742216.1:n.1502G>T
XR_427718.2:n.1588G>T
XR_948290.2:n.1394-1568G>T
XR_948291.2:n.1582G>T
NM_003060.4:c.1228G>T MANE Select	NP_003051.1:p.Gly410Cys
NM_001308122.2:c.1300G>T	NP_001295051.1:p.Gly434Cys