Canonical Allele Identifier: CA366345689
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160436852T>A , CM000668.2:g.160436852T>A GRCh38
NC_000006.11:g.160857884T>A , CM000668.1:g.160857884T>A GRCh37
NC_000006.10:g.160777874T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1048T>A MANE Select ENSP00000275300.2:p.Cys350Ser
ENST00000275300.2:c.1048T>A ENSP00000275300.2:p.Cys350Ser
NM_021977.3:c.1048T>A NP_068812.1:p.Cys350Ser
XM_005267106.3:c.655T>A XP_005267163.1:p.Cys219Ser
XM_011536075.1:c.592T>A XP_011534377.1:p.Cys198Ser
XM_011536076.1:c.592T>A XP_011534378.1:p.Cys198Ser
XM_011536077.1:c.592T>A XP_011534379.1:p.Cys198Ser
XR_245546.1:n.1018-5909T>A
XM_005267106.5:c.655T>A XP_005267163.1:p.Cys219Ser
XM_011536075.2:c.592T>A XP_011534377.1:p.Cys198Ser
XM_011536076.3:c.592T>A XP_011534378.1:p.Cys198Ser
XM_017011203.2:c.592T>A XP_016866692.1:p.Cys198Ser
XR_001743588.1:n.1018-145T>A
XR_001743589.1:n.1018-5909T>A
NM_021977.4:c.1048T>A MANE Select NP_068812.1:p.Cys350Ser