Canonical Allele Identifier: CA1583144609
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385400G= , CM000667.2:g.132385400G= GRCh38
NC_000005.9:g.131721092G= , CM000667.1:g.131721092G= GRCh37
NC_000005.8:g.131748991G= NCBI36
NG_008982.1:g.20692G=
NG_008982.2:g.20697G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1086G= ENSP00000388838.2:n.665+1086G=
ENST00000435065.7:c.797G= ENSP00000402760.2:p.Gly266=
ENST00000448810.6:c.725G= ENSP00000401860.2:p.Gly242=
ENST00000686757.1:c.744G= ENSP00000510721.1:p.Trp248=
ENST00000687740.1:n.1885G=
ENST00000688151.1:n.1917G=
ENST00000689271.1:c.671+1080G= ENSP00000510797.1:n.671+1080G=
ENST00000690900.1:c.696G= ENSP00000510703.1:p.Trp232=
ENST00000692212.1:n.551G=
ENST00000692355.1:c.204+1099G=
ENST00000692413.1:c.744G= ENSP00000509374.1:p.Trp248=
ENST00000692825.1:c.793G= ENSP00000509447.1:n.793G=
ENST00000693308.1:c.738G= ENSP00000509770.1:p.Trp246=
ENST00000693763.1:n.1885G=
ENST00000245407.8:c.725G= MANE Select ENSP00000245407.3:p.Gly242=
ENST00000245407.7:c.725G= ENSP00000245407.3:p.Gly242=
ENST00000415928.5:c.494G= ENSP00000388838.1:p.Gly165=
ENST00000435065.6:c.797G= ENSP00000402760.2:p.Gly266=
ENST00000437841.6:c.*40G= ENSP00000400553.1:n.*40G=
ENST00000448810.5:c.73G=
ENST00000461013.5:n.8147G=
NM_001308122.1:c.797G= NP_001295051.1:p.Gly266=
NM_003060.3:c.725G= NP_003051.1:p.Gly242=
XM_011543590.1:c.107G= XP_011541892.1:p.Gly36=
XR_427718.1:n.1085G=
XR_948290.1:n.1066G=
XR_948291.1:n.1079G=
XM_011543590.2:c.107G= XP_011541892.1:p.Gly36=
XM_017009778.2:c.197G= XP_016865267.1:p.Gly66=
XR_001742215.1:n.1066G=
XR_001742216.1:n.1085G=
XR_427718.2:n.1085G=
XR_948290.2:n.1066G=
XR_948291.2:n.1079G=
NM_003060.4:c.725G= MANE Select NP_003051.1:p.Gly242=
NM_001308122.2:c.797G= NP_001295051.1:p.Gly266=