Canonical Allele Identifier: CA360808598
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392489G>C , CM000667.2:g.132392489G>C GRCh38
NC_000005.9:g.131728181G>C , CM000667.1:g.131728181G>C GRCh37
NC_000005.8:g.131756080G>C NCBI36
NG_008982.1:g.27781G>C
NG_008982.2:g.27786G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1165G>C ENSP00000388838.2:p.Ala389Pro
ENST00000435065.7:c.1396G>C ENSP00000402760.2:p.Ala466Pro
ENST00000448810.6:c.*176G>C ENSP00000401860.2:n.*176G>C
ENST00000685543.1:n.1465G>C
ENST00000686757.1:c.*488G>C ENSP00000510721.1:n.*488G>C
ENST00000687740.1:n.4009G>C
ENST00000688151.1:n.2634G>C
ENST00000689271.1:c.1171G>C ENSP00000510797.1:p.Ala391Pro
ENST00000690900.1:c.*488G>C ENSP00000510703.1:n.*488G>C
ENST00000692212.1:n.4464G>C
ENST00000692355.1:c.577G>C
ENST00000692413.1:c.1306G>C ENSP00000509374.1:p.Ala436Pro
ENST00000692825.1:c.1392G>C ENSP00000509447.1:n.1392G>C
ENST00000693308.1:c.1372G>C ENSP00000509770.1:p.Ala458Pro
ENST00000693763.1:n.2484G>C
ENST00000245407.8:c.1324G>C MANE Select ENSP00000245407.3:p.Ala442Pro
ENST00000245407.7:c.1324G>C ENSP00000245407.3:p.Ala442Pro
ENST00000435065.6:c.1396G>C ENSP00000402760.2:p.Ala466Pro
ENST00000447841.5:c.168G>C
ENST00000448810.5:c.586G>C
ENST00000461013.5:n.8746G>C
ENST00000475308.1:n.2002G>C
ENST00000479605.5:n.427G>C
NM_001308122.1:c.1396G>C NP_001295051.1:p.Ala466Pro
NM_003060.3:c.1324G>C NP_003051.1:p.Ala442Pro
XM_011543590.1:c.706G>C XP_011541892.1:p.Ala236Pro
XR_948290.1:n.1450G>C
XM_011543590.2:c.706G>C XP_011541892.1:p.Ala236Pro
XM_017009778.2:c.796G>C XP_016865267.1:p.Ala266Pro
XR_001742215.1:n.1579G>C
XR_001742216.1:n.1598G>C
XR_427718.2:n.1684G>C
XR_948290.2:n.1450G>C
XR_948291.2:n.1678G>C
NM_003060.4:c.1324G>C MANE Select NP_003051.1:p.Ala442Pro
NM_001308122.2:c.1396G>C NP_001295051.1:p.Ala466Pro