Canonical Allele Identifier: CA360802875
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132370324G>A , CM000667.2:g.132370324G>A GRCh38
NC_000005.9:g.131706016G>A , CM000667.1:g.131706016G>A GRCh37
NC_000005.8:g.131733915G>A NCBI36
NG_008982.1:g.5616G>A
NG_008982.2:g.5621G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.352G>A ENSP00000388838.2:p.Glu118Lys
ENST00000435065.7:c.352G>A ENSP00000402760.2:p.Glu118Lys
ENST00000448810.6:c.352G>A ENSP00000401860.2:p.Glu118Lys
ENST00000686757.1:c.352G>A ENSP00000510721.1:p.Glu118Lys
ENST00000687740.1:n.486G>A
ENST00000689271.1:c.352G>A ENSP00000510797.1:p.Glu118Lys
ENST00000690900.1:c.352G>A ENSP00000510703.1:p.Glu118Lys
ENST00000692413.1:c.352G>A ENSP00000509374.1:p.Glu118Lys
ENST00000692825.1:c.352G>A ENSP00000509447.1:p.Glu118Lys
ENST00000693308.1:c.352G>A ENSP00000509770.1:p.Glu118Lys
ENST00000693763.1:n.486G>A
ENST00000245407.8:c.352G>A MANE Select ENSP00000245407.3:p.Glu118Lys
ENST00000245407.7:c.352G>A ENSP00000245407.3:p.Glu118Lys
ENST00000415928.5:c.49G>A ENSP00000388838.1:p.Glu17Lys
ENST00000435065.6:c.352G>A ENSP00000402760.2:p.Glu118Lys
ENST00000437841.6:c.352G>A ENSP00000400553.1:p.Glu118Lys
NM_001308122.1:c.352G>A NP_001295051.1:p.Glu118Lys
NM_003060.3:c.352G>A NP_003051.1:p.Glu118Lys
XR_427718.1:n.621G>A
XR_948290.1:n.621G>A
XR_948291.1:n.621G>A
XM_011543590.2:c.-280G>A XP_011541892.1:n.-280G>A
XM_017009778.2:c.-73G>A XP_016865267.1:n.-73G>A
XR_001742215.1:n.621G>A
XR_001742216.1:n.621G>A
XR_427718.2:n.621G>A
XR_948290.2:n.621G>A
XR_948291.2:n.621G>A
NM_003060.4:c.352G>A MANE Select NP_003051.1:p.Glu118Lys
NM_001308122.2:c.352G>A NP_001295051.1:p.Glu118Lys