Canonical Allele Identifier: CA360805651

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387101G>A , CM000667.2:g.132387101G>A	GRCh38
NC_000005.9:g.131722793G>A , CM000667.1:g.131722793G>A	GRCh37
NC_000005.8:g.131750692G>A	NCBI36
NG_008982.1:g.22393G>A
NG_008982.2:g.22398G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.901G>A MANE Select	NP_003051.1:p.Ala301Thr
ENST00000245407.8:c.901G>A MANE Select	ENSP00000245407.3:p.Ala301Thr
NM_001308122.1:c.973G>A	NP_001295051.1:p.Ala325Thr
NM_001308122.2:c.973G>A	NP_001295051.1:p.Ala325Thr
NM_003060.3:c.901G>A	NP_003051.1:p.Ala301Thr
ENST00000245407.7:c.901G>A	ENSP00000245407.3:p.Ala301Thr
ENST00000415928.5:c.670G>A	ENSP00000388838.1:p.Ala224Thr
ENST00000415928.6:c.742G>A	ENSP00000388838.2:p.Ala248Thr
ENST00000435065.6:c.973G>A	ENSP00000402760.2:p.Ala325Thr
ENST00000435065.7:c.973G>A	ENSP00000402760.2:p.Ala325Thr
ENST00000437841.6:c.*216G>A	ENSP00000400553.1:n.*216G>A
ENST00000448810.5:c.249G>A
ENST00000448810.6:c.901G>A	ENSP00000401860.2:p.Ala301Thr
ENST00000461013.5:n.8323G>A
ENST00000686757.1:c.*65G>A	ENSP00000510721.1:n.*65G>A
ENST00000687740.1:n.3586G>A
ENST00000688151.1:n.2211G>A
ENST00000689271.1:c.748G>A	ENSP00000510797.1:p.Ala250Thr
ENST00000690900.1:c.*65G>A	ENSP00000510703.1:n.*65G>A
ENST00000692212.1:n.845G>A
ENST00000692355.1:c.205-1820G>A
ENST00000692413.1:c.883G>A	ENSP00000509374.1:p.Ala295Thr
ENST00000692825.1:c.969G>A	ENSP00000509447.1:n.969G>A
ENST00000693308.1:c.949G>A	ENSP00000509770.1:p.Ala317Thr
ENST00000693763.1:n.2061G>A
XM_011543590.1:c.283G>A	XP_011541892.1:p.Ala95Thr
XM_011543590.2:c.283G>A	XP_011541892.1:p.Ala95Thr
XM_017009778.2:c.373G>A	XP_016865267.1:p.Ala125Thr
XR_001742215.1:n.1242G>A
XR_001742216.1:n.1261G>A
XR_427718.1:n.1261G>A
XR_427718.2:n.1261G>A
XR_948290.1:n.1242G>A
XR_948290.2:n.1242G>A
XR_948291.1:n.1255G>A
XR_948291.2:n.1255G>A