Canonical Allele Identifier: CA360809917
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393766G>C , CM000667.2:g.132393766G>C GRCh38
NC_000005.9:g.131729458G>C , CM000667.1:g.131729458G>C GRCh37
NC_000005.8:g.131757357G>C NCBI36
NG_008982.1:g.29058G>C
NG_008982.2:g.29063G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-419G>C ENSP00000388838.2:n.1292-419G>C
ENST00000435065.7:c.1613G>C ENSP00000402760.2:p.Gly538Ala
ENST00000448810.6:c.*393G>C ENSP00000401860.2:n.*393G>C
ENST00000685543.1:n.1682G>C
ENST00000686757.1:c.*705G>C ENSP00000510721.1:n.*705G>C
ENST00000686868.1:n.533G>C
ENST00000687740.1:n.4226G>C
ENST00000688151.1:n.2851G>C
ENST00000689271.1:c.1388G>C ENSP00000510797.1:p.Gly463Ala
ENST00000690900.1:c.*705G>C ENSP00000510703.1:n.*705G>C
ENST00000692212.1:n.4681G>C
ENST00000692355.1:c.794G>C
ENST00000692413.1:c.1523G>C ENSP00000509374.1:p.Gly508Ala
ENST00000692825.1:c.1609G>C ENSP00000509447.1:n.1609G>C
ENST00000693308.1:c.1589G>C ENSP00000509770.1:p.Gly530Ala
ENST00000693763.1:n.2701G>C
ENST00000245407.8:c.1541G>C MANE Select ENSP00000245407.3:p.Gly514Ala
ENST00000245407.7:c.1541G>C ENSP00000245407.3:p.Gly514Ala
ENST00000435065.6:c.1613G>C ENSP00000402760.2:p.Gly538Ala
ENST00000447841.5:c.385G>C
ENST00000448810.5:c.803G>C
ENST00000461013.5:n.8963G>C
ENST00000475308.1:n.2219G>C
NM_001308122.1:c.1613G>C NP_001295051.1:p.Gly538Ala
NM_003060.3:c.1541G>C NP_003051.1:p.Gly514Ala
XM_011543590.1:c.923G>C XP_011541892.1:p.Gly308Ala
XR_948290.1:n.1667G>C
XM_011543590.2:c.923G>C XP_011541892.1:p.Gly308Ala
XM_017009778.2:c.1013G>C XP_016865267.1:p.Gly338Ala
XR_001742215.1:n.1796G>C
XR_001742216.1:n.1815G>C
XR_427718.2:n.1901G>C
XR_948290.2:n.1667G>C
XR_948291.2:n.1895G>C
NM_003060.4:c.1541G>C MANE Select NP_003051.1:p.Gly514Ala
NM_001308122.2:c.1613G>C NP_001295051.1:p.Gly538Ala