Canonical Allele Identifier: CA1583150142
Community Standard Title: NM_003060.4(SLC22A5):c.1193C= (p.Pro398=)
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390830C= , CM000667.2:g.132390830C= GRCh38
NC_000005.9:g.131726522C= , CM000667.1:g.131726522C= GRCh37
NC_000005.8:g.131754421C= NCBI36
NG_008982.1:g.26122C=
NG_008982.2:g.26127C=

Transcript Alleles

HGVS Amino-acid Change
NM_003060.4:c.1193C= MANE Select NP_003051.1:p.Pro398=
ENST00000245407.8:c.1193C= MANE Select ENSP00000245407.3:p.Pro398=
NM_001308122.1:c.1265C= NP_001295051.1:p.Pro422=
NM_001308122.2:c.1265C= NP_001295051.1:p.Pro422=
NM_003060.3:c.1193C= NP_003051.1:p.Pro398=
ENST00000245407.7:c.1193C= ENSP00000245407.3:p.Pro398=
ENST00000415928.6:c.1034C= ENSP00000388838.2:p.Pro345=
ENST00000435065.6:c.1265C= ENSP00000402760.2:p.Pro422=
ENST00000435065.7:c.1265C= ENSP00000402760.2:p.Pro422=
ENST00000447841.5:c.112-1603C=
ENST00000448810.5:c.455C=
ENST00000448810.6:c.*45C= ENSP00000401860.2:n.*45C=
ENST00000461013.5:n.8615C=
ENST00000475308.1:n.1871C=
ENST00000479605.5:n.296C=
ENST00000685543.1:n.1334C=
ENST00000686757.1:c.*357C= ENSP00000510721.1:n.*357C=
ENST00000687740.1:n.3878C=
ENST00000688151.1:n.2503C=
ENST00000689271.1:c.1040C= ENSP00000510797.1:p.Pro347=
ENST00000690900.1:c.*357C= ENSP00000510703.1:n.*357C=
ENST00000692212.1:n.2805C=
ENST00000692355.1:c.446C=
ENST00000692413.1:c.1175C= ENSP00000509374.1:p.Pro392=
ENST00000692825.1:c.1261C= ENSP00000509447.1:n.1261C=
ENST00000693308.1:c.1241C= ENSP00000509770.1:p.Pro414=
ENST00000693763.1:n.2353C=
XM_011543590.1:c.575C= XP_011541892.1:p.Pro192=
XM_011543590.2:c.575C= XP_011541892.1:p.Pro192=
XM_017009778.2:c.665C= XP_016865267.1:p.Pro222=
XR_001742215.1:n.1448C=
XR_001742216.1:n.1467C=
XR_427718.1:n.1553C=
XR_427718.2:n.1553C=
XR_948290.1:n.1394-1603C=
XR_948290.2:n.1394-1603C=
XR_948291.1:n.1547C=
XR_948291.2:n.1547C=