Canonical Allele Identifier: CA3404011
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387134A>G , CM000667.2:g.132387134A>G GRCh38
NC_000005.9:g.131722826A>G , CM000667.1:g.131722826A>G GRCh37
NC_000005.8:g.131750725A>G NCBI36
NG_008982.1:g.22426A>G
NG_008982.2:g.22431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.775A>G ENSP00000388838.2:p.Ile259Val
ENST00000435065.7:c.1006A>G ENSP00000402760.2:p.Ile336Val
ENST00000448810.6:c.934A>G ENSP00000401860.2:p.Ile312Val
ENST00000686757.1:c.*98A>G ENSP00000510721.1:n.*98A>G
ENST00000687740.1:n.3619A>G
ENST00000688151.1:n.2244A>G
ENST00000689271.1:c.781A>G ENSP00000510797.1:p.Ile261Val
ENST00000690900.1:c.*98A>G ENSP00000510703.1:n.*98A>G
ENST00000692212.1:n.878A>G
ENST00000692355.1:c.205-1787A>G
ENST00000692413.1:c.916A>G ENSP00000509374.1:p.Ile306Val
ENST00000692825.1:c.1002A>G ENSP00000509447.1:n.1002A>G
ENST00000693308.1:c.982A>G ENSP00000509770.1:p.Ile328Val
ENST00000693763.1:n.2094A>G
ENST00000245407.8:c.934A>G MANE Select ENSP00000245407.3:p.Ile312Val
ENST00000245407.7:c.934A>G ENSP00000245407.3:p.Ile312Val
ENST00000415928.5:c.703A>G ENSP00000388838.1:p.Ile235Val
ENST00000435065.6:c.1006A>G ENSP00000402760.2:p.Ile336Val
ENST00000437841.6:c.*249A>G ENSP00000400553.1:n.*249A>G
ENST00000448810.5:c.282A>G
ENST00000461013.5:n.8356A>G
NM_001308122.1:c.1006A>G NP_001295051.1:p.Ile336Val
NM_003060.3:c.934A>G NP_003051.1:p.Ile312Val
XM_011543590.1:c.316A>G XP_011541892.1:p.Ile106Val
XR_427718.1:n.1294A>G
XR_948290.1:n.1275A>G
XR_948291.1:n.1288A>G
XM_011543590.2:c.316A>G XP_011541892.1:p.Ile106Val
XM_017009778.2:c.406A>G XP_016865267.1:p.Ile136Val
XR_001742215.1:n.1275A>G
XR_001742216.1:n.1294A>G
XR_427718.2:n.1294A>G
XR_948290.2:n.1275A>G
XR_948291.2:n.1288A>G
NM_003060.4:c.934A>G MANE Select NP_003051.1:p.Ile312Val
NM_001308122.2:c.1006A>G NP_001295051.1:p.Ile336Val