Canonical Allele Identifier: CA360808785
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392513A>T , CM000667.2:g.132392513A>T GRCh38
NC_000005.9:g.131728205A>T , CM000667.1:g.131728205A>T GRCh37
NC_000005.8:g.131756104A>T NCBI36
NG_008982.1:g.27805A>T
NG_008982.2:g.27810A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1189A>T ENSP00000388838.2:p.Thr397Ser
ENST00000435065.7:c.1420A>T ENSP00000402760.2:p.Thr474Ser
ENST00000448810.6:c.*200A>T ENSP00000401860.2:n.*200A>T
ENST00000685543.1:n.1489A>T
ENST00000686757.1:c.*512A>T ENSP00000510721.1:n.*512A>T
ENST00000687740.1:n.4033A>T
ENST00000688151.1:n.2658A>T
ENST00000689271.1:c.1195A>T ENSP00000510797.1:p.Thr399Ser
ENST00000690900.1:c.*512A>T ENSP00000510703.1:n.*512A>T
ENST00000692212.1:n.4488A>T
ENST00000692355.1:c.601A>T
ENST00000692413.1:c.1330A>T ENSP00000509374.1:p.Thr444Ser
ENST00000692825.1:c.1416A>T ENSP00000509447.1:n.1416A>T
ENST00000693308.1:c.1396A>T ENSP00000509770.1:p.Thr466Ser
ENST00000693763.1:n.2508A>T
ENST00000245407.8:c.1348A>T MANE Select ENSP00000245407.3:p.Thr450Ser
ENST00000245407.7:c.1348A>T ENSP00000245407.3:p.Thr450Ser
ENST00000435065.6:c.1420A>T ENSP00000402760.2:p.Thr474Ser
ENST00000447841.5:c.192A>T
ENST00000448810.5:c.610A>T
ENST00000461013.5:n.8770A>T
ENST00000475308.1:n.2026A>T
ENST00000479605.5:n.451A>T
NM_001308122.1:c.1420A>T NP_001295051.1:p.Thr474Ser
NM_003060.3:c.1348A>T NP_003051.1:p.Thr450Ser
XM_011543590.1:c.730A>T XP_011541892.1:p.Thr244Ser
XR_948290.1:n.1474A>T
XM_011543590.2:c.730A>T XP_011541892.1:p.Thr244Ser
XM_017009778.2:c.820A>T XP_016865267.1:p.Thr274Ser
XR_001742215.1:n.1603A>T
XR_001742216.1:n.1622A>T
XR_427718.2:n.1708A>T
XR_948290.2:n.1474A>T
XR_948291.2:n.1702A>T
NM_003060.4:c.1348A>T MANE Select NP_003051.1:p.Thr450Ser
NM_001308122.2:c.1420A>T NP_001295051.1:p.Thr474Ser