Canonical Allele Identifier: CA360808520

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392478G>A , CM000667.2:g.132392478G>A	GRCh38
NC_000005.9:g.131728170G>A , CM000667.1:g.131728170G>A	GRCh37
NC_000005.8:g.131756069G>A	NCBI36
NG_008982.1:g.27770G>A
NG_008982.2:g.27775G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1313G>A MANE Select	NP_003051.1:p.Gly438Glu
ENST00000245407.8:c.1313G>A MANE Select	ENSP00000245407.3:p.Gly438Glu
NM_001308122.1:c.1385G>A	NP_001295051.1:p.Gly462Glu
NM_001308122.2:c.1385G>A	NP_001295051.1:p.Gly462Glu
NM_003060.3:c.1313G>A	NP_003051.1:p.Gly438Glu
ENST00000245407.7:c.1313G>A	ENSP00000245407.3:p.Gly438Glu
ENST00000415928.6:c.1154G>A	ENSP00000388838.2:p.Gly385Glu
ENST00000435065.6:c.1385G>A	ENSP00000402760.2:p.Gly462Glu
ENST00000435065.7:c.1385G>A	ENSP00000402760.2:p.Gly462Glu
ENST00000447841.5:c.157G>A
ENST00000448810.5:c.575G>A
ENST00000448810.6:c.*165G>A	ENSP00000401860.2:n.*165G>A
ENST00000461013.5:n.8735G>A
ENST00000475308.1:n.1991G>A
ENST00000479605.5:n.416G>A
ENST00000685543.1:n.1454G>A
ENST00000686757.1:c.*477G>A	ENSP00000510721.1:n.*477G>A
ENST00000687740.1:n.3998G>A
ENST00000688151.1:n.2623G>A
ENST00000689271.1:c.1160G>A	ENSP00000510797.1:p.Gly387Glu
ENST00000690900.1:c.*477G>A	ENSP00000510703.1:n.*477G>A
ENST00000692212.1:n.4453G>A
ENST00000692355.1:c.566G>A
ENST00000692413.1:c.1295G>A	ENSP00000509374.1:p.Gly432Glu
ENST00000692825.1:c.1381G>A	ENSP00000509447.1:n.1381G>A
ENST00000693308.1:c.1361G>A	ENSP00000509770.1:p.Gly454Glu
ENST00000693763.1:n.2473G>A
XM_011543590.1:c.695G>A	XP_011541892.1:p.Gly232Glu
XM_011543590.2:c.695G>A	XP_011541892.1:p.Gly232Glu
XM_017009778.2:c.785G>A	XP_016865267.1:p.Gly262Glu
XR_001742215.1:n.1568G>A
XR_001742216.1:n.1587G>A
XR_427718.2:n.1673G>A
XR_948290.1:n.1439G>A
XR_948290.2:n.1439G>A
XR_948291.2:n.1667G>A