Canonical Allele Identifier: CA366345684
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160436850A>T , CM000668.2:g.160436850A>T GRCh38
NC_000006.11:g.160857882A>T , CM000668.1:g.160857882A>T GRCh37
NC_000006.10:g.160777872A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1046A>T MANE Select ENSP00000275300.2:p.Lys349Ile
ENST00000275300.2:c.1046A>T ENSP00000275300.2:p.Lys349Ile
NM_021977.3:c.1046A>T NP_068812.1:p.Lys349Ile
XM_005267106.3:c.653A>T XP_005267163.1:p.Lys218Ile
XM_011536075.1:c.590A>T XP_011534377.1:p.Lys197Ile
XM_011536076.1:c.590A>T XP_011534378.1:p.Lys197Ile
XM_011536077.1:c.590A>T XP_011534379.1:p.Lys197Ile
XR_245546.1:n.1018-5911A>T
XM_005267106.5:c.653A>T XP_005267163.1:p.Lys218Ile
XM_011536075.2:c.590A>T XP_011534377.1:p.Lys197Ile
XM_011536076.3:c.590A>T XP_011534378.1:p.Lys197Ile
XM_017011203.2:c.590A>T XP_016866692.1:p.Lys197Ile
XR_001743588.1:n.1018-147A>T
XR_001743589.1:n.1018-5911A>T
NM_021977.4:c.1046A>T MANE Select NP_068812.1:p.Lys349Ile