Canonical Allele Identifier: CA2580072657
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1929876
ClinVar RCV Id: RCV002618778

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390916G>A , CM000667.2:g.132390916G>A GRCh38
NC_000005.9:g.131726608G>A , CM000667.1:g.131726608G>A GRCh37
NC_000005.8:g.131754507G>A NCBI36
NG_008982.1:g.26208G>A
NG_008982.2:g.26213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1108+12G>A ENSP00000388838.2:n.1108+12G>A
ENST00000435065.7:c.1339+12G>A ENSP00000402760.2:n.1339+12G>A
ENST00000448810.6:c.*119+12G>A ENSP00000401860.2:n.*119+12G>A
ENST00000685543.1:n.1408+12G>A
ENST00000686757.1:c.*431+12G>A ENSP00000510721.1:n.*431+12G>A
ENST00000687740.1:n.3952+12G>A
ENST00000688151.1:n.2577+12G>A
ENST00000689271.1:c.1114+12G>A ENSP00000510797.1:n.1114+12G>A
ENST00000690900.1:c.*431+12G>A ENSP00000510703.1:n.*431+12G>A
ENST00000692212.1:n.2891G>A
ENST00000692355.1:c.520+12G>A
ENST00000692413.1:c.1249+12G>A ENSP00000509374.1:n.1249+12G>A
ENST00000692825.1:c.1335+12G>A ENSP00000509447.1:n.1335+12G>A
ENST00000693308.1:c.1315+12G>A ENSP00000509770.1:n.1315+12G>A
ENST00000693763.1:n.2427+12G>A
ENST00000245407.8:c.1267+12G>A MANE Select ENSP00000245407.3:n.1267+12G>A
ENST00000245407.7:c.1267+12G>A ENSP00000245407.3:n.1267+12G>A
ENST00000435065.6:c.1339+12G>A ENSP00000402760.2:n.1339+12G>A
ENST00000447841.5:c.112-1517G>A
ENST00000448810.5:c.529+12G>A
ENST00000461013.5:n.8689+12G>A
ENST00000475308.1:n.1945+12G>A
ENST00000479605.5:n.370+12G>A
NM_001308122.1:c.1339+12G>A NP_001295051.1:n.1339+12G>A
NM_003060.3:c.1267+12G>A NP_003051.1:n.1267+12G>A
XM_011543590.1:c.649+12G>A XP_011541892.1:n.649+12G>A
XR_427718.1:n.1627+12G>A
XR_948290.1:n.1394-1517G>A
XR_948291.1:n.1621+12G>A
XM_011543590.2:c.649+12G>A XP_011541892.1:n.649+12G>A
XM_017009778.2:c.739+12G>A XP_016865267.1:n.739+12G>A
XR_001742215.1:n.1522+12G>A
XR_001742216.1:n.1541+12G>A
XR_427718.2:n.1627+12G>A
XR_948290.2:n.1394-1517G>A
XR_948291.2:n.1621+12G>A
NM_003060.4:c.1267+12G>A MANE Select NP_003051.1:n.1267+12G>A
NM_001308122.2:c.1339+12G>A NP_001295051.1:n.1339+12G>A