Canonical Allele Identifier: CA366346172
Gene: SLC22A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437203T>G , CM000668.2:g.160437203T>G GRCh38
NC_000006.11:g.160858235T>G , CM000668.1:g.160858235T>G GRCh37
NC_000006.10:g.160778225T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1280T>G MANE Select ENSP00000275300.2:p.Leu427Ter
ENST00000275300.2:c.1280T>G ENSP00000275300.2:p.Leu427Ter
NM_021977.3:c.1280T>G NP_068812.1:p.Leu427Ter
XM_005267106.3:c.887T>G XP_005267163.1:p.Leu296Ter
XM_011536075.1:c.824T>G XP_011534377.1:p.Leu275Ter
XM_011536076.1:c.824T>G XP_011534378.1:p.Leu275Ter
XM_011536077.1:c.824T>G XP_011534379.1:p.Leu275Ter
XR_245546.1:n.1018-5558T>G
XM_005267106.5:c.887T>G XP_005267163.1:p.Leu296Ter
XM_011536075.2:c.824T>G XP_011534377.1:p.Leu275Ter
XM_011536076.3:c.824T>G XP_011534378.1:p.Leu275Ter
XM_017011203.2:c.824T>G XP_016866692.1:p.Leu275Ter
XR_001743588.1:n.1224T>G
XR_001743589.1:n.1018-5558T>G
NM_021977.4:c.1280T>G MANE Select NP_068812.1:p.Leu427Ter