Canonical Allele Identifier: CA366345682
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1046A>C MANE Select ENSP00000275300.2:p.Lys349Thr
ENST00000275300.2:c.1046A>C ENSP00000275300.2:p.Lys349Thr
NM_021977.3:c.1046A>C NP_068812.1:p.Lys349Thr
XM_005267106.3:c.653A>C XP_005267163.1:p.Lys218Thr
XM_011536075.1:c.590A>C XP_011534377.1:p.Lys197Thr
XM_011536076.1:c.590A>C XP_011534378.1:p.Lys197Thr
XM_011536077.1:c.590A>C XP_011534379.1:p.Lys197Thr
XR_245546.1:n.1018-5911A>C
XM_005267106.5:c.653A>C XP_005267163.1:p.Lys218Thr
XM_011536075.2:c.590A>C XP_011534377.1:p.Lys197Thr
XM_011536076.3:c.590A>C XP_011534378.1:p.Lys197Thr
XM_017011203.2:c.590A>C XP_016866692.1:p.Lys197Thr
XR_001743588.1:n.1018-147A>C
XR_001743589.1:n.1018-5911A>C
NM_021977.4:c.1046A>C MANE Select NP_068812.1:p.Lys349Thr