Canonical Allele Identifier: CA360808633
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132392493T>C , CM000667.2:g.132392493T>C GRCh38
NC_000005.9:g.131728185T>C , CM000667.1:g.131728185T>C GRCh37
NC_000005.8:g.131756084T>C NCBI36
NG_008982.1:g.27785T>C
NG_008982.2:g.27790T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1169T>C ENSP00000388838.2:p.Phe390Ser
ENST00000435065.7:c.1400T>C ENSP00000402760.2:p.Phe467Ser
ENST00000448810.6:c.*180T>C ENSP00000401860.2:n.*180T>C
ENST00000685543.1:n.1469T>C
ENST00000686757.1:c.*492T>C ENSP00000510721.1:n.*492T>C
ENST00000687740.1:n.4013T>C
ENST00000688151.1:n.2638T>C
ENST00000689271.1:c.1175T>C ENSP00000510797.1:p.Phe392Ser
ENST00000690900.1:c.*492T>C ENSP00000510703.1:n.*492T>C
ENST00000692212.1:n.4468T>C
ENST00000692355.1:c.581T>C
ENST00000692413.1:c.1310T>C ENSP00000509374.1:p.Phe437Ser
ENST00000692825.1:c.1396T>C ENSP00000509447.1:n.1396T>C
ENST00000693308.1:c.1376T>C ENSP00000509770.1:p.Phe459Ser
ENST00000693763.1:n.2488T>C
ENST00000245407.8:c.1328T>C MANE Select ENSP00000245407.3:p.Phe443Ser
ENST00000245407.7:c.1328T>C ENSP00000245407.3:p.Phe443Ser
ENST00000435065.6:c.1400T>C ENSP00000402760.2:p.Phe467Ser
ENST00000447841.5:c.172T>C
ENST00000448810.5:c.590T>C
ENST00000461013.5:n.8750T>C
ENST00000475308.1:n.2006T>C
ENST00000479605.5:n.431T>C
NM_001308122.1:c.1400T>C NP_001295051.1:p.Phe467Ser
NM_003060.3:c.1328T>C NP_003051.1:p.Phe443Ser
XM_011543590.1:c.710T>C XP_011541892.1:p.Phe237Ser
XR_948290.1:n.1454T>C
XM_011543590.2:c.710T>C XP_011541892.1:p.Phe237Ser
XM_017009778.2:c.800T>C XP_016865267.1:p.Phe267Ser
XR_001742215.1:n.1583T>C
XR_001742216.1:n.1602T>C
XR_427718.2:n.1688T>C
XR_948290.2:n.1454T>C
XR_948291.2:n.1682T>C
NM_003060.4:c.1328T>C MANE Select NP_003051.1:p.Phe443Ser
NM_001308122.2:c.1400T>C NP_001295051.1:p.Phe467Ser