Canonical Allele Identifier: CA803967891
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs1336195018

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387046dup , CM000667.2:g.132387046dup GRCh38
NC_000005.9:g.131722738dup , CM000667.1:g.131722738dup GRCh37
NC_000005.8:g.131750637dup NCBI36
NG_008982.1:g.22338dup
NG_008982.2:g.22343dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.687dup ENSP00000388838.2:p.Trp230MetfsTer9
ENST00000435065.7:c.918dup ENSP00000402760.2:p.Trp307MetfsTer9
ENST00000448810.6:c.846dup ENSP00000401860.2:p.Trp283MetfsTer9
ENST00000686757.1:c.*10dup ENSP00000510721.1:n.*10dup
ENST00000687740.1:n.3531dup
ENST00000688151.1:n.2156dup
ENST00000689271.1:c.693dup ENSP00000510797.1:p.Trp232MetfsTer9
ENST00000690900.1:c.*10dup ENSP00000510703.1:n.*10dup
ENST00000692212.1:n.790dup
ENST00000692355.1:c.205-1875dup
ENST00000692413.1:c.844-16dup ENSP00000509374.1:n.844-16dup
ENST00000692825.1:c.914dup ENSP00000509447.1:n.914dup
ENST00000693308.1:c.894dup ENSP00000509770.1:p.Trp299MetfsTer9
ENST00000693763.1:n.2006dup
ENST00000245407.8:c.846dup MANE Select ENSP00000245407.3:p.Trp283MetfsTer9
ENST00000245407.7:c.846dup ENSP00000245407.3:p.Trp283MetfsTer9
ENST00000415928.5:c.615dup ENSP00000388838.1:p.Trp206MetfsTer9
ENST00000435065.6:c.918dup ENSP00000402760.2:p.Trp307MetfsTer9
ENST00000437841.6:c.*161dup ENSP00000400553.1:n.*161dup
ENST00000448810.5:c.194dup
ENST00000461013.5:n.8268dup
NM_001308122.1:c.918dup NP_001295051.1:p.Trp307MetfsTer9
NM_003060.3:c.846dup NP_003051.1:p.Trp283MetfsTer9
XM_011543590.1:c.228dup XP_011541892.1:p.Trp77MetfsTer9
XR_427718.1:n.1206dup
XR_948290.1:n.1187dup
XR_948291.1:n.1200dup
XM_011543590.2:c.228dup XP_011541892.1:p.Trp77MetfsTer9
XM_017009778.2:c.318dup XP_016865267.1:p.Trp107MetfsTer9
XR_001742215.1:n.1187dup
XR_001742216.1:n.1206dup
XR_427718.2:n.1206dup
XR_948290.2:n.1187dup
XR_948291.2:n.1200dup
NM_003060.4:c.846dup MANE Select NP_003051.1:p.Trp283MetfsTer9
NM_001308122.2:c.918dup NP_001295051.1:p.Trp307MetfsTer9