Canonical Allele Identifier: CA446346644
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131729474C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393782C>T , CM000667.2:g.132393782C>T GRCh38
NC_000005.9:g.131729474C>T , CM000667.1:g.131729474C>T GRCh37
NC_000005.8:g.131757373C>T NCBI36
NG_008982.1:g.29074C>T
NG_008982.2:g.29079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-403C>T ENSP00000388838.2:n.1292-403C>T
ENST00000435065.7:c.1629C>T ENSP00000402760.2:p.Asp543=
ENST00000448810.6:c.*409C>T ENSP00000401860.2:n.*409C>T
ENST00000685543.1:n.1698C>T
ENST00000686757.1:c.*721C>T ENSP00000510721.1:n.*721C>T
ENST00000686868.1:n.549C>T
ENST00000687740.1:n.4242C>T
ENST00000688151.1:n.2867C>T
ENST00000689271.1:c.1404C>T ENSP00000510797.1:p.Asp468=
ENST00000690900.1:c.*721C>T ENSP00000510703.1:n.*721C>T
ENST00000692212.1:n.4697C>T
ENST00000692355.1:c.810C>T
ENST00000692413.1:c.1539C>T ENSP00000509374.1:p.Asp513=
ENST00000692825.1:c.1625C>T ENSP00000509447.1:n.1625C>T
ENST00000693308.1:c.1605C>T ENSP00000509770.1:p.Asp535=
ENST00000693763.1:n.2717C>T
ENST00000245407.8:c.1557C>T MANE Select ENSP00000245407.3:p.Asp519=
ENST00000245407.7:c.1557C>T ENSP00000245407.3:p.Asp519=
ENST00000435065.6:c.1629C>T ENSP00000402760.2:p.Asp543=
ENST00000447841.5:c.401C>T
ENST00000448810.5:c.819C>T
ENST00000461013.5:n.8979C>T
ENST00000475308.1:n.2235C>T
NM_001308122.1:c.1629C>T NP_001295051.1:p.Asp543=
NM_003060.3:c.1557C>T NP_003051.1:p.Asp519=
XM_011543590.1:c.939C>T XP_011541892.1:p.Asp313=
XR_948290.1:n.1683C>T
XM_011543590.2:c.939C>T XP_011541892.1:p.Asp313=
XM_017009778.2:c.1029C>T XP_016865267.1:p.Asp343=
XR_001742215.1:n.1812C>T
XR_001742216.1:n.1831C>T
XR_427718.2:n.1917C>T
XR_948290.2:n.1683C>T
XR_948291.2:n.1911C>T
NM_003060.4:c.1557C>T MANE Select NP_003051.1:p.Asp519=
NM_001308122.2:c.1629C>T NP_001295051.1:p.Asp543=