Canonical Allele Identifier: CA360807509
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs761648900

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390731C>A , CM000667.2:g.132390731C>A GRCh38
NC_000005.9:g.131726423C>A , CM000667.1:g.131726423C>A GRCh37
NC_000005.8:g.131754322C>A NCBI36
NG_008982.1:g.26023C>A
NG_008982.2:g.26028C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.935C>A ENSP00000388838.2:p.Thr312Asn
ENST00000435065.7:c.1166C>A ENSP00000402760.2:p.Thr389Asn
ENST00000448810.6:c.1053-45C>A ENSP00000401860.2:n.1053-45C>A
ENST00000685543.1:n.1235C>A
ENST00000686757.1:c.*258C>A ENSP00000510721.1:n.*258C>A
ENST00000687740.1:n.3779C>A
ENST00000688151.1:n.2404C>A
ENST00000689271.1:c.941C>A ENSP00000510797.1:p.Thr314Asn
ENST00000690900.1:c.*258C>A ENSP00000510703.1:n.*258C>A
ENST00000692212.1:n.2706C>A
ENST00000692355.1:c.347C>A
ENST00000692413.1:c.1076C>A ENSP00000509374.1:p.Thr359Asn
ENST00000692825.1:c.1162C>A ENSP00000509447.1:n.1162C>A
ENST00000693308.1:c.1142C>A ENSP00000509770.1:p.Thr381Asn
ENST00000693763.1:n.2254C>A
ENST00000245407.8:c.1094C>A MANE Select ENSP00000245407.3:p.Thr365Asn
ENST00000245407.7:c.1094C>A ENSP00000245407.3:p.Thr365Asn
ENST00000435065.6:c.1166C>A ENSP00000402760.2:p.Thr389Asn
ENST00000447841.5:c.112-1702C>A
ENST00000448810.5:c.401-45C>A
ENST00000461013.5:n.8516C>A
ENST00000475308.1:n.1772C>A
ENST00000479605.5:n.197C>A
NM_001308122.1:c.1166C>A NP_001295051.1:p.Thr389Asn
NM_003060.3:c.1094C>A NP_003051.1:p.Thr365Asn
XM_011543590.1:c.476C>A XP_011541892.1:p.Thr159Asn
XR_427718.1:n.1454C>A
XR_948290.1:n.1394-1702C>A
XR_948291.1:n.1448C>A
XM_011543590.2:c.476C>A XP_011541892.1:p.Thr159Asn
XM_017009778.2:c.566C>A XP_016865267.1:p.Thr189Asn
XR_001742215.1:n.1394-45C>A
XR_001742216.1:n.1413-45C>A
XR_427718.2:n.1454C>A
XR_948290.2:n.1394-1702C>A
XR_948291.2:n.1448C>A
NM_003060.4:c.1094C>A MANE Select NP_003051.1:p.Thr365Asn
NM_001308122.2:c.1166C>A NP_001295051.1:p.Thr389Asn