Canonical Allele Identifier: CA360809877
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393756G>T , CM000667.2:g.132393756G>T GRCh38
NC_000005.9:g.131729448G>T , CM000667.1:g.131729448G>T GRCh37
NC_000005.8:g.131757347G>T NCBI36
NG_008982.1:g.29048G>T
NG_008982.2:g.29053G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-429G>T ENSP00000388838.2:n.1292-429G>T
ENST00000435065.7:c.1603G>T ENSP00000402760.2:p.Glu535Ter
ENST00000448810.6:c.*383G>T ENSP00000401860.2:n.*383G>T
ENST00000685543.1:n.1672G>T
ENST00000686757.1:c.*695G>T ENSP00000510721.1:n.*695G>T
ENST00000686868.1:n.523G>T
ENST00000687740.1:n.4216G>T
ENST00000688151.1:n.2841G>T
ENST00000689271.1:c.1378G>T ENSP00000510797.1:p.Glu460Ter
ENST00000690900.1:c.*695G>T ENSP00000510703.1:n.*695G>T
ENST00000692212.1:n.4671G>T
ENST00000692355.1:c.784G>T
ENST00000692413.1:c.1513G>T ENSP00000509374.1:p.Glu505Ter
ENST00000692825.1:c.1599G>T ENSP00000509447.1:n.1599G>T
ENST00000693308.1:c.1579G>T ENSP00000509770.1:p.Glu527Ter
ENST00000693763.1:n.2691G>T
ENST00000245407.8:c.1531G>T MANE Select ENSP00000245407.3:p.Glu511Ter
ENST00000245407.7:c.1531G>T ENSP00000245407.3:p.Glu511Ter
ENST00000435065.6:c.1603G>T ENSP00000402760.2:p.Glu535Ter
ENST00000447841.5:c.375G>T
ENST00000448810.5:c.793G>T
ENST00000461013.5:n.8953G>T
ENST00000475308.1:n.2209G>T
NM_001308122.1:c.1603G>T NP_001295051.1:p.Glu535Ter
NM_003060.3:c.1531G>T NP_003051.1:p.Glu511Ter
XM_011543590.1:c.913G>T XP_011541892.1:p.Glu305Ter
XR_948290.1:n.1657G>T
XM_011543590.2:c.913G>T XP_011541892.1:p.Glu305Ter
XM_017009778.2:c.1003G>T XP_016865267.1:p.Glu335Ter
XR_001742215.1:n.1786G>T
XR_001742216.1:n.1805G>T
XR_427718.2:n.1891G>T
XR_948290.2:n.1657G>T
XR_948291.2:n.1885G>T
NM_003060.4:c.1531G>T MANE Select NP_003051.1:p.Glu511Ter
NM_001308122.2:c.1603G>T NP_001295051.1:p.Glu535Ter