Canonical Allele Identifier: CA1583144579
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393785C= , CM000667.2:g.132393785C= GRCh38
NC_000005.9:g.131729477C= , CM000667.1:g.131729477C= GRCh37
NC_000005.8:g.131757376C= NCBI36
NG_008982.1:g.29077C=
NG_008982.2:g.29082C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-400C= ENSP00000388838.2:n.1292-400C=
ENST00000435065.7:c.1632C= ENSP00000402760.2:p.Thr544=
ENST00000448810.6:c.*412C= ENSP00000401860.2:n.*412C=
ENST00000685543.1:n.1701C=
ENST00000686757.1:c.*724C= ENSP00000510721.1:n.*724C=
ENST00000686868.1:n.552C=
ENST00000687740.1:n.4245C=
ENST00000688151.1:n.2870C=
ENST00000689271.1:c.1407C= ENSP00000510797.1:p.Thr469=
ENST00000690900.1:c.*724C= ENSP00000510703.1:n.*724C=
ENST00000692212.1:n.4700C=
ENST00000692355.1:c.813C=
ENST00000692413.1:c.1542C= ENSP00000509374.1:p.Thr514=
ENST00000692825.1:c.1628C= ENSP00000509447.1:n.1628C=
ENST00000693308.1:c.1608C= ENSP00000509770.1:p.Thr536=
ENST00000693763.1:n.2720C=
ENST00000245407.8:c.1560C= MANE Select ENSP00000245407.3:p.Thr520=
ENST00000245407.7:c.1560C= ENSP00000245407.3:p.Thr520=
ENST00000435065.6:c.1632C= ENSP00000402760.2:p.Thr544=
ENST00000447841.5:c.404C=
ENST00000448810.5:c.822C=
ENST00000461013.5:n.8982C=
ENST00000475308.1:n.2238C=
NM_001308122.1:c.1632C= NP_001295051.1:p.Thr544=
NM_003060.3:c.1560C= NP_003051.1:p.Thr520=
XM_011543590.1:c.942C= XP_011541892.1:p.Thr314=
XR_948290.1:n.1686C=
XM_011543590.2:c.942C= XP_011541892.1:p.Thr314=
XM_017009778.2:c.1032C= XP_016865267.1:p.Thr344=
XR_001742215.1:n.1815C=
XR_001742216.1:n.1834C=
XR_427718.2:n.1920C=
XR_948290.2:n.1686C=
XR_948291.2:n.1914C=
NM_003060.4:c.1560C= MANE Select NP_003051.1:p.Thr520=
NM_001308122.2:c.1632C= NP_001295051.1:p.Thr544=