Canonical Allele Identifier: CA366346137
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437185G>C , CM000668.2:g.160437185G>C GRCh38
NC_000006.11:g.160858217G>C , CM000668.1:g.160858217G>C GRCh37
NC_000006.10:g.160778207G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1262G>C MANE Select ENSP00000275300.2:p.Cys421Ser
ENST00000275300.2:c.1262G>C ENSP00000275300.2:p.Cys421Ser
NM_021977.3:c.1262G>C NP_068812.1:p.Cys421Ser
XM_005267106.3:c.869G>C XP_005267163.1:p.Cys290Ser
XM_011536075.1:c.806G>C XP_011534377.1:p.Cys269Ser
XM_011536076.1:c.806G>C XP_011534378.1:p.Cys269Ser
XM_011536077.1:c.806G>C XP_011534379.1:p.Cys269Ser
XR_245546.1:n.1018-5576G>C
XM_005267106.5:c.869G>C XP_005267163.1:p.Cys290Ser
XM_011536075.2:c.806G>C XP_011534377.1:p.Cys269Ser
XM_011536076.3:c.806G>C XP_011534378.1:p.Cys269Ser
XM_017011203.2:c.806G>C XP_016866692.1:p.Cys269Ser
XR_001743588.1:n.1206G>C
XR_001743589.1:n.1018-5576G>C
NM_021977.4:c.1262G>C MANE Select NP_068812.1:p.Cys421Ser