Canonical Allele Identifier: CA360805012
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2542115
ClinVar RCV Id: RCV003257045

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385366T>C , CM000667.2:g.132385366T>C GRCh38
NC_000005.9:g.131721058T>C , CM000667.1:g.131721058T>C GRCh37
NC_000005.8:g.131748957T>C NCBI36
NG_008982.1:g.20658T>C
NG_008982.2:g.20663T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1052T>C ENSP00000388838.2:n.665+1052T>C
ENST00000435065.7:c.763T>C ENSP00000402760.2:p.Ser255Pro
ENST00000448810.6:c.691T>C ENSP00000401860.2:p.Ser231Pro
ENST00000686757.1:c.710T>C ENSP00000510721.1:p.Leu237Pro
ENST00000687740.1:n.1851T>C
ENST00000688151.1:n.1883T>C
ENST00000689271.1:c.671+1046T>C ENSP00000510797.1:n.671+1046T>C
ENST00000690900.1:c.672-10T>C ENSP00000510703.1:n.672-10T>C
ENST00000692212.1:n.517T>C
ENST00000692355.1:c.204+1065T>C
ENST00000692413.1:c.710T>C ENSP00000509374.1:p.Leu237Pro
ENST00000692825.1:c.759T>C ENSP00000509447.1:n.759T>C
ENST00000693308.1:c.704T>C ENSP00000509770.1:p.Leu235Pro
ENST00000693763.1:n.1851T>C
ENST00000245407.8:c.691T>C MANE Select ENSP00000245407.3:p.Ser231Pro
ENST00000245407.7:c.691T>C ENSP00000245407.3:p.Ser231Pro
ENST00000415928.5:c.460T>C ENSP00000388838.1:p.Ser154Pro
ENST00000435065.6:c.763T>C ENSP00000402760.2:p.Ser255Pro
ENST00000437841.6:c.*6T>C ENSP00000400553.1:n.*6T>C
ENST00000448810.5:c.39T>C
ENST00000461013.5:n.8113T>C
NM_001308122.1:c.763T>C NP_001295051.1:p.Ser255Pro
NM_003060.3:c.691T>C NP_003051.1:p.Ser231Pro
XM_011543590.1:c.73T>C XP_011541892.1:p.Ser25Pro
XR_427718.1:n.1051T>C
XR_948290.1:n.1032T>C
XR_948291.1:n.1045T>C
XM_011543590.2:c.73T>C XP_011541892.1:p.Ser25Pro
XM_017009778.2:c.163T>C XP_016865267.1:p.Ser55Pro
XR_001742215.1:n.1032T>C
XR_001742216.1:n.1051T>C
XR_427718.2:n.1051T>C
XR_948290.2:n.1032T>C
XR_948291.2:n.1045T>C
NM_003060.4:c.691T>C MANE Select NP_003051.1:p.Ser231Pro
NM_001308122.2:c.763T>C NP_001295051.1:p.Ser255Pro