Canonical Allele Identifier: CA366345736
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160436873G>A , CM000668.2:g.160436873G>A GRCh38
NC_000006.11:g.160857905G>A , CM000668.1:g.160857905G>A GRCh37
NC_000006.10:g.160777895G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1069G>A MANE Select ENSP00000275300.2:p.Ala357Thr
ENST00000275300.2:c.1069G>A ENSP00000275300.2:p.Ala357Thr
NM_021977.3:c.1069G>A NP_068812.1:p.Ala357Thr
XM_005267106.3:c.676G>A XP_005267163.1:p.Ala226Thr
XM_011536075.1:c.613G>A XP_011534377.1:p.Ala205Thr
XM_011536076.1:c.613G>A XP_011534378.1:p.Ala205Thr
XM_011536077.1:c.613G>A XP_011534379.1:p.Ala205Thr
XR_245546.1:n.1018-5888G>A
XM_005267106.5:c.676G>A XP_005267163.1:p.Ala226Thr
XM_011536075.2:c.613G>A XP_011534377.1:p.Ala205Thr
XM_011536076.3:c.613G>A XP_011534378.1:p.Ala205Thr
XM_017011203.2:c.613G>A XP_016866692.1:p.Ala205Thr
XR_001743588.1:n.1018-124G>A
XR_001743589.1:n.1018-5888G>A
NM_021977.4:c.1069G>A MANE Select NP_068812.1:p.Ala357Thr