Canonical Allele Identifier: CA1583144784
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385477G= , CM000667.2:g.132385477G= GRCh38
NC_000005.9:g.131721169G= , CM000667.1:g.131721169G= GRCh37
NC_000005.8:g.131749068G= NCBI36
NG_008982.1:g.20769G=
NG_008982.2:g.20774G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1163G= ENSP00000388838.2:n.665+1163G=
ENST00000435065.7:c.874G= ENSP00000402760.2:p.Val292=
ENST00000448810.6:c.802G= ENSP00000401860.2:p.Val268=
ENST00000686757.1:c.821G= ENSP00000510721.1:p.Gly274=
ENST00000687740.1:n.1962G=
ENST00000688151.1:n.1994G=
ENST00000689271.1:c.671+1157G= ENSP00000510797.1:n.671+1157G=
ENST00000690900.1:c.773G= ENSP00000510703.1:p.Gly258=
ENST00000692212.1:n.628G=
ENST00000692355.1:c.204+1176G=
ENST00000692413.1:c.821G= ENSP00000509374.1:p.Gly274=
ENST00000692825.1:c.870G= ENSP00000509447.1:n.870G=
ENST00000693308.1:c.815G= ENSP00000509770.1:p.Gly272=
ENST00000693763.1:n.1962G=
ENST00000245407.8:c.802G= MANE Select ENSP00000245407.3:p.Val268=
ENST00000245407.7:c.802G= ENSP00000245407.3:p.Val268=
ENST00000415928.5:c.571G= ENSP00000388838.1:p.Val191=
ENST00000435065.6:c.874G= ENSP00000402760.2:p.Val292=
ENST00000437841.6:c.*117G= ENSP00000400553.1:n.*117G=
ENST00000448810.5:c.150G=
ENST00000461013.5:n.8224G=
NM_001308122.1:c.874G= NP_001295051.1:p.Val292=
NM_003060.3:c.802G= NP_003051.1:p.Val268=
XM_011543590.1:c.184G= XP_011541892.1:p.Val62=
XR_427718.1:n.1162G=
XR_948290.1:n.1143G=
XR_948291.1:n.1156G=
XM_011543590.2:c.184G= XP_011541892.1:p.Val62=
XM_017009778.2:c.274G= XP_016865267.1:p.Val92=
XR_001742215.1:n.1143G=
XR_001742216.1:n.1162G=
XR_427718.2:n.1162G=
XR_948290.2:n.1143G=
XR_948291.2:n.1156G=
NM_003060.4:c.802G= MANE Select NP_003051.1:p.Val268=
NM_001308122.2:c.874G= NP_001295051.1:p.Val292=