Canonical Allele Identifier: CA360807559
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390754T>G , CM000667.2:g.132390754T>G GRCh38
NC_000005.9:g.131726446T>G , CM000667.1:g.131726446T>G GRCh37
NC_000005.8:g.131754345T>G NCBI36
NG_008982.1:g.26046T>G
NG_008982.2:g.26051T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.958T>G ENSP00000388838.2:p.Phe320Val
ENST00000435065.7:c.1189T>G ENSP00000402760.2:p.Phe397Val
ENST00000448810.6:c.1053-22T>G ENSP00000401860.2:n.1053-22T>G
ENST00000685543.1:n.1258T>G
ENST00000686757.1:c.*281T>G ENSP00000510721.1:n.*281T>G
ENST00000687740.1:n.3802T>G
ENST00000688151.1:n.2427T>G
ENST00000689271.1:c.964T>G ENSP00000510797.1:p.Phe322Val
ENST00000690900.1:c.*281T>G ENSP00000510703.1:n.*281T>G
ENST00000692212.1:n.2729T>G
ENST00000692355.1:c.370T>G
ENST00000692413.1:c.1099T>G ENSP00000509374.1:p.Phe367Val
ENST00000692825.1:c.1185T>G ENSP00000509447.1:n.1185T>G
ENST00000693308.1:c.1165T>G ENSP00000509770.1:p.Phe389Val
ENST00000693763.1:n.2277T>G
ENST00000245407.8:c.1117T>G MANE Select ENSP00000245407.3:p.Phe373Val
ENST00000245407.7:c.1117T>G ENSP00000245407.3:p.Phe373Val
ENST00000435065.6:c.1189T>G ENSP00000402760.2:p.Phe397Val
ENST00000447841.5:c.112-1679T>G
ENST00000448810.5:c.401-22T>G
ENST00000461013.5:n.8539T>G
ENST00000475308.1:n.1795T>G
ENST00000479605.5:n.220T>G
NM_001308122.1:c.1189T>G NP_001295051.1:p.Phe397Val
NM_003060.3:c.1117T>G NP_003051.1:p.Phe373Val
XM_011543590.1:c.499T>G XP_011541892.1:p.Phe167Val
XR_427718.1:n.1477T>G
XR_948290.1:n.1394-1679T>G
XR_948291.1:n.1471T>G
XM_011543590.2:c.499T>G XP_011541892.1:p.Phe167Val
XM_017009778.2:c.589T>G XP_016865267.1:p.Phe197Val
XR_001742215.1:n.1394-22T>G
XR_001742216.1:n.1413-22T>G
XR_427718.2:n.1477T>G
XR_948290.2:n.1394-1679T>G
XR_948291.2:n.1471T>G
NM_003060.4:c.1117T>G MANE Select NP_003051.1:p.Phe373Val
NM_001308122.2:c.1189T>G NP_001295051.1:p.Phe397Val