Canonical Allele Identifier: CA366345827
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437028G>A , CM000668.2:g.160437028G>A GRCh38
NC_000006.11:g.160858060G>A , CM000668.1:g.160858060G>A GRCh37
NC_000006.10:g.160778050G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1105G>A MANE Select ENSP00000275300.2:p.Val369Ile
ENST00000275300.2:c.1105G>A ENSP00000275300.2:p.Val369Ile
NM_021977.3:c.1105G>A NP_068812.1:p.Val369Ile
XM_005267106.3:c.712G>A XP_005267163.1:p.Val238Ile
XM_011536075.1:c.649G>A XP_011534377.1:p.Val217Ile
XM_011536076.1:c.649G>A XP_011534378.1:p.Val217Ile
XM_011536077.1:c.649G>A XP_011534379.1:p.Val217Ile
XR_245546.1:n.1018-5733G>A
XM_005267106.5:c.712G>A XP_005267163.1:p.Val238Ile
XM_011536075.2:c.649G>A XP_011534377.1:p.Val217Ile
XM_011536076.3:c.649G>A XP_011534378.1:p.Val217Ile
XM_017011203.2:c.649G>A XP_016866692.1:p.Val217Ile
XR_001743588.1:n.1049G>A
XR_001743589.1:n.1018-5733G>A
NM_021977.4:c.1105G>A MANE Select NP_068812.1:p.Val369Ile