Canonical Allele Identifier: CA360809879
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393757A>C , CM000667.2:g.132393757A>C GRCh38
NC_000005.9:g.131729449A>C , CM000667.1:g.131729449A>C GRCh37
NC_000005.8:g.131757348A>C NCBI36
NG_008982.1:g.29049A>C
NG_008982.2:g.29054A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-428A>C ENSP00000388838.2:n.1292-428A>C
ENST00000435065.7:c.1604A>C ENSP00000402760.2:p.Glu535Ala
ENST00000448810.6:c.*384A>C ENSP00000401860.2:n.*384A>C
ENST00000685543.1:n.1673A>C
ENST00000686757.1:c.*696A>C ENSP00000510721.1:n.*696A>C
ENST00000686868.1:n.524A>C
ENST00000687740.1:n.4217A>C
ENST00000688151.1:n.2842A>C
ENST00000689271.1:c.1379A>C ENSP00000510797.1:p.Glu460Ala
ENST00000690900.1:c.*696A>C ENSP00000510703.1:n.*696A>C
ENST00000692212.1:n.4672A>C
ENST00000692355.1:c.785A>C
ENST00000692413.1:c.1514A>C ENSP00000509374.1:p.Glu505Ala
ENST00000692825.1:c.1600A>C ENSP00000509447.1:n.1600A>C
ENST00000693308.1:c.1580A>C ENSP00000509770.1:p.Glu527Ala
ENST00000693763.1:n.2692A>C
ENST00000245407.8:c.1532A>C MANE Select ENSP00000245407.3:p.Glu511Ala
ENST00000245407.7:c.1532A>C ENSP00000245407.3:p.Glu511Ala
ENST00000435065.6:c.1604A>C ENSP00000402760.2:p.Glu535Ala
ENST00000447841.5:c.376A>C
ENST00000448810.5:c.794A>C
ENST00000461013.5:n.8954A>C
ENST00000475308.1:n.2210A>C
NM_001308122.1:c.1604A>C NP_001295051.1:p.Glu535Ala
NM_003060.3:c.1532A>C NP_003051.1:p.Glu511Ala
XM_011543590.1:c.914A>C XP_011541892.1:p.Glu305Ala
XR_948290.1:n.1658A>C
XM_011543590.2:c.914A>C XP_011541892.1:p.Glu305Ala
XM_017009778.2:c.1004A>C XP_016865267.1:p.Glu335Ala
XR_001742215.1:n.1787A>C
XR_001742216.1:n.1806A>C
XR_427718.2:n.1892A>C
XR_948290.2:n.1658A>C
XR_948291.2:n.1886A>C
NM_003060.4:c.1532A>C MANE Select NP_003051.1:p.Glu511Ala
NM_001308122.2:c.1604A>C NP_001295051.1:p.Glu535Ala