Canonical Allele Identifier: CA360807540
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349723
ClinVar RCV Id: RCV002039221
dbSNP Id: rs2126789674

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390746G>A , CM000667.2:g.132390746G>A GRCh38
NC_000005.9:g.131726438G>A , CM000667.1:g.131726438G>A GRCh37
NC_000005.8:g.131754337G>A NCBI36
NG_008982.1:g.26038G>A
NG_008982.2:g.26043G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.950G>A ENSP00000388838.2:p.Gly317Glu
ENST00000435065.7:c.1181G>A ENSP00000402760.2:p.Gly394Glu
ENST00000448810.6:c.1053-30G>A ENSP00000401860.2:n.1053-30G>A
ENST00000685543.1:n.1250G>A
ENST00000686757.1:c.*273G>A ENSP00000510721.1:n.*273G>A
ENST00000687740.1:n.3794G>A
ENST00000688151.1:n.2419G>A
ENST00000689271.1:c.956G>A ENSP00000510797.1:p.Gly319Glu
ENST00000690900.1:c.*273G>A ENSP00000510703.1:n.*273G>A
ENST00000692212.1:n.2721G>A
ENST00000692355.1:c.362G>A
ENST00000692413.1:c.1091G>A ENSP00000509374.1:p.Gly364Glu
ENST00000692825.1:c.1177G>A ENSP00000509447.1:n.1177G>A
ENST00000693308.1:c.1157G>A ENSP00000509770.1:p.Gly386Glu
ENST00000693763.1:n.2269G>A
ENST00000245407.8:c.1109G>A MANE Select ENSP00000245407.3:p.Gly370Glu
ENST00000245407.7:c.1109G>A ENSP00000245407.3:p.Gly370Glu
ENST00000435065.6:c.1181G>A ENSP00000402760.2:p.Gly394Glu
ENST00000447841.5:c.112-1687G>A
ENST00000448810.5:c.401-30G>A
ENST00000461013.5:n.8531G>A
ENST00000475308.1:n.1787G>A
ENST00000479605.5:n.212G>A
NM_001308122.1:c.1181G>A NP_001295051.1:p.Gly394Glu
NM_003060.3:c.1109G>A NP_003051.1:p.Gly370Glu
XM_011543590.1:c.491G>A XP_011541892.1:p.Gly164Glu
XR_427718.1:n.1469G>A
XR_948290.1:n.1394-1687G>A
XR_948291.1:n.1463G>A
XM_011543590.2:c.491G>A XP_011541892.1:p.Gly164Glu
XM_017009778.2:c.581G>A XP_016865267.1:p.Gly194Glu
XR_001742215.1:n.1394-30G>A
XR_001742216.1:n.1413-30G>A
XR_427718.2:n.1469G>A
XR_948290.2:n.1394-1687G>A
XR_948291.2:n.1463G>A
NM_003060.4:c.1109G>A MANE Select NP_003051.1:p.Gly370Glu
NM_001308122.2:c.1181G>A NP_001295051.1:p.Gly394Glu