Canonical Allele Identifier: CA127211591
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132389026G>A , CM000667.2:g.132389026G>A GRCh38
NC_000005.9:g.131724718G>A , CM000667.1:g.131724718G>A GRCh37
NC_000005.8:g.131752617G>A NCBI36
NG_008982.1:g.24318G>A
NG_008982.2:g.24323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.893+5G>A ENSP00000388838.2:n.893+5G>A
ENST00000435065.7:c.1124+5G>A ENSP00000402760.2:n.1124+5G>A
ENST00000448810.6:c.1052+5G>A ENSP00000401860.2:n.1052+5G>A
ENST00000685543.1:n.1193+5G>A
ENST00000686757.1:c.*216+5G>A ENSP00000510721.1:n.*216+5G>A
ENST00000687740.1:n.3737+5G>A
ENST00000688151.1:n.2362+5G>A
ENST00000689271.1:c.899+5G>A ENSP00000510797.1:n.899+5G>A
ENST00000690900.1:c.*216+5G>A ENSP00000510703.1:n.*216+5G>A
ENST00000692212.1:n.1001G>A
ENST00000692355.1:c.305+5G>A
ENST00000692413.1:c.1034+5G>A ENSP00000509374.1:n.1034+5G>A
ENST00000692825.1:c.1120+5G>A ENSP00000509447.1:n.1120+5G>A
ENST00000693308.1:c.1100+5G>A ENSP00000509770.1:n.1100+5G>A
ENST00000693763.1:n.2212+5G>A
ENST00000245407.8:c.1052+5G>A MANE Select ENSP00000245407.3:n.1052+5G>A
ENST00000245407.7:c.1052+5G>A ENSP00000245407.3:n.1052+5G>A
ENST00000435065.6:c.1124+5G>A ENSP00000402760.2:n.1124+5G>A
ENST00000447841.5:c.111+5G>A
ENST00000448810.5:c.400+5G>A
ENST00000461013.5:n.8474+5G>A
ENST00000475308.1:n.67G>A
ENST00000479605.5:n.155+5G>A
NM_001308122.1:c.1124+5G>A NP_001295051.1:n.1124+5G>A
NM_003060.3:c.1052+5G>A NP_003051.1:n.1052+5G>A
XM_011543590.1:c.434+5G>A XP_011541892.1:n.434+5G>A
XR_427718.1:n.1412+5G>A
XR_948290.1:n.1393+5G>A
XR_948291.1:n.1406+5G>A
XM_011543590.2:c.434+5G>A XP_011541892.1:n.434+5G>A
XM_017009778.2:c.524+5G>A XP_016865267.1:n.524+5G>A
XR_001742215.1:n.1393+5G>A
XR_001742216.1:n.1412+5G>A
XR_427718.2:n.1412+5G>A
XR_948290.2:n.1393+5G>A
XR_948291.2:n.1406+5G>A
NM_003060.4:c.1052+5G>A MANE Select NP_003051.1:n.1052+5G>A
NM_001308122.2:c.1124+5G>A NP_001295051.1:n.1124+5G>A