Canonical Allele Identifier: CA340582
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 6417
dbSNP Id: rs121908887

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390839dup , CM000667.2:g.132390839dup GRCh38
NC_000005.9:g.131726531dup , CM000667.1:g.131726531dup GRCh37
NC_000005.8:g.131754430dup NCBI36
NG_008982.1:g.26131dup
NG_008982.2:g.26136dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1043dup ENSP00000388838.2:p.Tyr348Ter
ENST00000435065.7:c.1274dup ENSP00000402760.2:p.Tyr425Ter
ENST00000448810.6:c.*54dup ENSP00000401860.2:n.*54dup
ENST00000685543.1:n.1343dup
ENST00000686757.1:c.*366dup ENSP00000510721.1:n.*366dup
ENST00000687740.1:n.3887dup
ENST00000688151.1:n.2512dup
ENST00000689271.1:c.1049dup ENSP00000510797.1:p.Tyr350Ter
ENST00000690900.1:c.*366dup ENSP00000510703.1:n.*366dup
ENST00000692212.1:n.2814dup
ENST00000692355.1:c.455dup
ENST00000692413.1:c.1184dup ENSP00000509374.1:p.Tyr395Ter
ENST00000692825.1:c.1270dup ENSP00000509447.1:n.1270dup
ENST00000693308.1:c.1250dup ENSP00000509770.1:p.Tyr417Ter
ENST00000693763.1:n.2362dup
ENST00000245407.8:c.1202dup MANE Select ENSP00000245407.3:p.Tyr401Ter
ENST00000245407.7:c.1202dup ENSP00000245407.3:p.Tyr401Ter
ENST00000435065.6:c.1274dup ENSP00000402760.2:p.Tyr425Ter
ENST00000447841.5:c.112-1594dup
ENST00000448810.5:c.464dup
ENST00000461013.5:n.8624dup
ENST00000475308.1:n.1880dup
ENST00000479605.5:n.305dup
NM_001308122.1:c.1274dup NP_001295051.1:p.Tyr425Ter
NM_003060.3:c.1202dup NP_003051.1:p.Tyr401Ter
XM_011543590.1:c.584dup XP_011541892.1:p.Tyr195Ter
XR_427718.1:n.1562dup
XR_948290.1:n.1394-1594dup
XR_948291.1:n.1556dup
XM_011543590.2:c.584dup XP_011541892.1:p.Tyr195Ter
XM_017009778.2:c.674dup XP_016865267.1:p.Tyr225Ter
XR_001742215.1:n.1457dup
XR_001742216.1:n.1476dup
XR_427718.2:n.1562dup
XR_948290.2:n.1394-1594dup
XR_948291.2:n.1556dup
NM_003060.4:c.1202dup MANE Select NP_003051.1:p.Tyr401Ter
NM_001308122.2:c.1274dup NP_001295051.1:p.Tyr425Ter