Canonical Allele Identifier: CA360804977
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2007600
ClinVar RCV Id: RCV002842430

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385346A>T , CM000667.2:g.132385346A>T GRCh38
NC_000005.9:g.131721038A>T , CM000667.1:g.131721038A>T GRCh37
NC_000005.8:g.131748937A>T NCBI36
NG_008982.1:g.20638A>T
NG_008982.2:g.20643A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1032A>T ENSP00000388838.2:n.665+1032A>T
ENST00000435065.7:c.743A>T ENSP00000402760.2:p.Lys248Met
ENST00000448810.6:c.671A>T ENSP00000401860.2:p.Lys224Met
ENST00000686757.1:c.690A>T ENSP00000510721.1:p.Gln230His
ENST00000687740.1:n.1831A>T
ENST00000688151.1:n.1863A>T
ENST00000689271.1:c.671+1026A>T ENSP00000510797.1:n.671+1026A>T
ENST00000690900.1:c.672-30A>T ENSP00000510703.1:n.672-30A>T
ENST00000692212.1:n.497A>T
ENST00000692355.1:c.204+1045A>T
ENST00000692413.1:c.690A>T ENSP00000509374.1:p.Gln230His
ENST00000692825.1:c.739A>T ENSP00000509447.1:n.739A>T
ENST00000693308.1:c.684A>T ENSP00000509770.1:p.Gln228His
ENST00000693763.1:n.1831A>T
ENST00000245407.8:c.671A>T MANE Select ENSP00000245407.3:p.Lys224Met
ENST00000245407.7:c.671A>T ENSP00000245407.3:p.Lys224Met
ENST00000415928.5:c.440A>T ENSP00000388838.1:p.Lys147Met
ENST00000435065.6:c.743A>T ENSP00000402760.2:p.Lys248Met
ENST00000437841.6:c.412A>T ENSP00000400553.1:p.Ser138Cys
ENST00000448810.5:c.19A>T
ENST00000461013.5:n.8093A>T
NM_001308122.1:c.743A>T NP_001295051.1:p.Lys248Met
NM_003060.3:c.671A>T NP_003051.1:p.Lys224Met
XM_011543590.1:c.53A>T XP_011541892.1:p.Lys18Met
XR_427718.1:n.1031A>T
XR_948290.1:n.1012A>T
XR_948291.1:n.1025A>T
XM_011543590.2:c.53A>T XP_011541892.1:p.Lys18Met
XM_017009778.2:c.143A>T XP_016865267.1:p.Lys48Met
XR_001742215.1:n.1012A>T
XR_001742216.1:n.1031A>T
XR_427718.2:n.1031A>T
XR_948290.2:n.1012A>T
XR_948291.2:n.1025A>T
NM_003060.4:c.671A>T MANE Select NP_003051.1:p.Lys224Met
NM_001308122.2:c.743A>T NP_001295051.1:p.Lys248Met