Canonical Allele Identifier: CA446330169
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721078A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385386A>T , CM000667.2:g.132385386A>T GRCh38
NC_000005.9:g.131721078A>T , CM000667.1:g.131721078A>T GRCh37
NC_000005.8:g.131748977A>T NCBI36
NG_008982.1:g.20678A>T
NG_008982.2:g.20683A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1072A>T ENSP00000388838.2:n.665+1072A>T
ENST00000435065.7:c.783A>T ENSP00000402760.2:p.Ile261=
ENST00000448810.6:c.711A>T ENSP00000401860.2:p.Ile237=
ENST00000686757.1:c.730A>T ENSP00000510721.1:p.Ile244Phe
ENST00000687740.1:n.1871A>T
ENST00000688151.1:n.1903A>T
ENST00000689271.1:c.671+1066A>T ENSP00000510797.1:n.671+1066A>T
ENST00000690900.1:c.682A>T ENSP00000510703.1:p.Ile228Phe
ENST00000692212.1:n.537A>T
ENST00000692355.1:c.204+1085A>T
ENST00000692413.1:c.730A>T ENSP00000509374.1:p.Ile244Phe
ENST00000692825.1:c.779A>T ENSP00000509447.1:n.779A>T
ENST00000693308.1:c.724A>T ENSP00000509770.1:p.Ile242Phe
ENST00000693763.1:n.1871A>T
ENST00000245407.8:c.711A>T MANE Select ENSP00000245407.3:p.Ile237=
ENST00000245407.7:c.711A>T ENSP00000245407.3:p.Ile237=
ENST00000415928.5:c.480A>T ENSP00000388838.1:p.Ile160=
ENST00000435065.6:c.783A>T ENSP00000402760.2:p.Ile261=
ENST00000437841.6:c.*26A>T ENSP00000400553.1:n.*26A>T
ENST00000448810.5:c.59A>T
ENST00000461013.5:n.8133A>T
NM_001308122.1:c.783A>T NP_001295051.1:p.Ile261=
NM_003060.3:c.711A>T NP_003051.1:p.Ile237=
XM_011543590.1:c.93A>T XP_011541892.1:p.Ile31=
XR_427718.1:n.1071A>T
XR_948290.1:n.1052A>T
XR_948291.1:n.1065A>T
XM_011543590.2:c.93A>T XP_011541892.1:p.Ile31=
XM_017009778.2:c.183A>T XP_016865267.1:p.Ile61=
XR_001742215.1:n.1052A>T
XR_001742216.1:n.1071A>T
XR_427718.2:n.1071A>T
XR_948290.2:n.1052A>T
XR_948291.2:n.1065A>T
NM_003060.4:c.711A>T MANE Select NP_003051.1:p.Ile237=
NM_001308122.2:c.783A>T NP_001295051.1:p.Ile261=