Canonical Allele Identifier: CA3404040
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 529850
dbSNP Id: rs142479732

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132388979C>T , CM000667.2:g.132388979C>T GRCh38
NC_000005.9:g.131724671C>T , CM000667.1:g.131724671C>T GRCh37
NC_000005.8:g.131752570C>T NCBI36
NG_008982.1:g.24271C>T
NG_008982.2:g.24276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.851C>T ENSP00000388838.2:p.Thr284Ile
ENST00000435065.7:c.1082C>T ENSP00000402760.2:p.Thr361Ile
ENST00000448810.6:c.1010C>T ENSP00000401860.2:p.Thr337Ile
ENST00000685543.1:n.1151C>T
ENST00000686757.1:c.*174C>T ENSP00000510721.1:n.*174C>T
ENST00000687740.1:n.3695C>T
ENST00000688151.1:n.2320C>T
ENST00000689271.1:c.857C>T ENSP00000510797.1:p.Thr286Ile
ENST00000690900.1:c.*174C>T ENSP00000510703.1:n.*174C>T
ENST00000692212.1:n.954C>T
ENST00000692355.1:c.263C>T
ENST00000692413.1:c.992C>T ENSP00000509374.1:p.Thr331Ile
ENST00000692825.1:c.1078C>T ENSP00000509447.1:n.1078C>T
ENST00000693308.1:c.1058C>T ENSP00000509770.1:p.Thr353Ile
ENST00000693763.1:n.2170C>T
ENST00000245407.8:c.1010C>T MANE Select ENSP00000245407.3:p.Thr337Ile
ENST00000245407.7:c.1010C>T ENSP00000245407.3:p.Thr337Ile
ENST00000435065.6:c.1082C>T ENSP00000402760.2:p.Thr361Ile
ENST00000437841.6:c.*325C>T ENSP00000400553.1:n.*325C>T
ENST00000447841.5:c.69C>T
ENST00000448810.5:c.358C>T
ENST00000461013.5:n.8432C>T
ENST00000475308.1:n.20C>T
ENST00000479605.5:n.113C>T
NM_001308122.1:c.1082C>T NP_001295051.1:p.Thr361Ile
NM_003060.3:c.1010C>T NP_003051.1:p.Thr337Ile
XM_011543590.1:c.392C>T XP_011541892.1:p.Thr131Ile
XR_427718.1:n.1370C>T
XR_948290.1:n.1351C>T
XR_948291.1:n.1364C>T
XM_011543590.2:c.392C>T XP_011541892.1:p.Thr131Ile
XM_017009778.2:c.482C>T XP_016865267.1:p.Thr161Ile
XR_001742215.1:n.1351C>T
XR_001742216.1:n.1370C>T
XR_427718.2:n.1370C>T
XR_948290.2:n.1351C>T
XR_948291.2:n.1364C>T
NM_003060.4:c.1010C>T MANE Select NP_003051.1:p.Thr337Ile
NM_001308122.2:c.1082C>T NP_001295051.1:p.Thr361Ile