Canonical Allele Identifier: CA3404088

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390775G>A , CM000667.2:g.132390775G>A	GRCh38
NC_000005.9:g.131726467G>A , CM000667.1:g.131726467G>A	GRCh37
NC_000005.8:g.131754366G>A	NCBI36
NG_008982.1:g.26067G>A
NG_008982.2:g.26072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1138G>A MANE Select	NP_003051.1:p.Ala380Thr
ENST00000245407.8:c.1138G>A MANE Select	ENSP00000245407.3:p.Ala380Thr
NM_001308122.1:c.1210G>A	NP_001295051.1:p.Ala404Thr
NM_001308122.2:c.1210G>A	NP_001295051.1:p.Ala404Thr
NM_003060.3:c.1138G>A	NP_003051.1:p.Ala380Thr
ENST00000245407.7:c.1138G>A	ENSP00000245407.3:p.Ala380Thr
ENST00000415928.6:c.979G>A	ENSP00000388838.2:p.Ala327Thr
ENST00000435065.6:c.1210G>A	ENSP00000402760.2:p.Ala404Thr
ENST00000435065.7:c.1210G>A	ENSP00000402760.2:p.Ala404Thr
ENST00000447841.5:c.112-1658G>A
ENST00000448810.5:c.401-1G>A
ENST00000448810.6:c.1053-1G>A	ENSP00000401860.2:n.1053-1G>A
ENST00000461013.5:n.8560G>A
ENST00000475308.1:n.1816G>A
ENST00000479605.5:n.241G>A
ENST00000685543.1:n.1279G>A
ENST00000686757.1:c.*302G>A	ENSP00000510721.1:n.*302G>A
ENST00000687740.1:n.3823G>A
ENST00000688151.1:n.2448G>A
ENST00000689271.1:c.985G>A	ENSP00000510797.1:p.Ala329Thr
ENST00000690900.1:c.*302G>A	ENSP00000510703.1:n.*302G>A
ENST00000692212.1:n.2750G>A
ENST00000692355.1:c.391G>A
ENST00000692413.1:c.1120G>A	ENSP00000509374.1:p.Ala374Thr
ENST00000692825.1:c.1206G>A	ENSP00000509447.1:n.1206G>A
ENST00000693308.1:c.1186G>A	ENSP00000509770.1:p.Ala396Thr
ENST00000693763.1:n.2298G>A
XM_011543590.1:c.520G>A	XP_011541892.1:p.Ala174Thr
XM_011543590.2:c.520G>A	XP_011541892.1:p.Ala174Thr
XM_017009778.2:c.610G>A	XP_016865267.1:p.Ala204Thr
XR_001742215.1:n.1394-1G>A
XR_001742216.1:n.1413-1G>A
XR_427718.1:n.1498G>A
XR_427718.2:n.1498G>A
XR_948290.1:n.1394-1658G>A
XR_948290.2:n.1394-1658G>A
XR_948291.1:n.1492G>A
XR_948291.2:n.1492G>A