Canonical Allele Identifier: CA366346111
Gene: SLC22A3 HGNC NCBI

Linked Data

dbSNP Id: rs1258075546

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160437170T>A , CM000668.2:g.160437170T>A GRCh38
NC_000006.11:g.160858202T>A , CM000668.1:g.160858202T>A GRCh37
NC_000006.10:g.160778192T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275300.3:c.1247T>A MANE Select ENSP00000275300.2:p.Val416Glu
ENST00000275300.2:c.1247T>A ENSP00000275300.2:p.Val416Glu
NM_021977.3:c.1247T>A NP_068812.1:p.Val416Glu
XM_005267106.3:c.854T>A XP_005267163.1:p.Val285Glu
XM_011536075.1:c.791T>A XP_011534377.1:p.Val264Glu
XM_011536076.1:c.791T>A XP_011534378.1:p.Val264Glu
XM_011536077.1:c.791T>A XP_011534379.1:p.Val264Glu
XR_245546.1:n.1018-5591T>A
XM_005267106.5:c.854T>A XP_005267163.1:p.Val285Glu
XM_011536075.2:c.791T>A XP_011534377.1:p.Val264Glu
XM_011536076.3:c.791T>A XP_011534378.1:p.Val264Glu
XM_017011203.2:c.791T>A XP_016866692.1:p.Val264Glu
XR_001743588.1:n.1191T>A
XR_001743589.1:n.1018-5591T>A
NM_021977.4:c.1247T>A MANE Select NP_068812.1:p.Val416Glu